Variant ID: 11-126243952-G-A

NM_006278.3(ST3GAL4):c.-61+17755G>A

This variant was identified in 80 publications




Publications:


Plasma lipid levels and risk of primary open angle glaucoma: a genetic study using Mendelian randomization.

Bmc Ophthalmology
M Xu, S Li, J Zhu, D Luo, W Song, M Zhou
Publication Date: 2020-10-02

Variant appearance in text: rs11220462
PubMed Link: 33008364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.

Biomedicines
JM Martín-Campos, S Ruiz-Nogales, D Ibarretxe, E Ortega, E Sánchez-Pujol, M Royuela-Juncadella, À Vila, C Guerrero, A Zamora, C Soler I Ferrer, JA Arroyo, G Carreras, S Martínez-Figueroa, R Roig, N Plana, F Blanco-Vaca, Xarxa d'Unitats de Lípids I Arteriosclerosi Xula
Publication Date: 2020-09-15

Variant appearance in text: rs11220462
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: rs11220462
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDL-C plays a causal role on T2DM: a Mendelian randomization analysis.

Aging
W Pan, W Sun, S Yang, H Zhuang, H Jiang, H Ju, D Wang, Y Han
Publication Date: 2020-02-10

Variant appearance in text: rs11220462
PubMed Link: 32040442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative Trait Module-Based Genetic Analysis of Alzheimer's Disease.

International Journal Of Molecular Sciences
S Yuan, H Li, J Xie, X Sun
Publication Date: 2019-11-25

Variant appearance in text: rs11220462
PubMed Link: 31775305
Variant Present in the following documents:
  • ijms-20-05912.pdf
View BVdb publication page



Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration.

Nature Communications
R Noordam, MM Bos, H Wang, TW Winkler, AR Bentley, TO Kilpeläinen, PS de Vries, YJ Sung, K Schwander, BE Cade, A Manning, H Aschard, MR Brown, H Chen, N Franceschini, SK Musani, M Richard, D Vojinovic, S Aslibekyan, TM Bartz, L de Las Fuentes, M Feitosa, AR Horimoto, M Ilkov, M Kho, A Kraja, C Li, E Lim, Y Liu, DO Mook-Kanamori, T Rankinen, SM Tajuddin, A van der Spek, Z Wang, J Marten, V Laville, M Alver, E Evangelou, ME Graff, M He, B Kühnel, LP Lyytikäinen, P Marques-Vidal, IM Nolte, ND Palmer, R Rauramaa, XO Shu, H Snieder, S Weiss, W Wen, LR Yanek, C Adolfo, C Ballantyne, L Bielak, NR Biermasz, E Boerwinkle, N Dimou, G Eiriksdottir, C Gao, SA Gharib, DJ Gottlieb, J Haba-Rubio, TB Harris, S Heikkinen, R Heinzer, JE Hixson, G Homuth, MA Ikram, P Komulainen, JE Krieger, J Lee, J Liu, KK Lohman, AI Luik, R Mägi, LW Martin, T Meitinger, A Metspalu, Y Milaneschi, MA Nalls, J O'Connell, A Peters, P Peyser, OT Raitakari, AP Reiner, PCN Rensen, TK Rice, SS Rich, T Roenneberg, JI Rotter, PJ Schreiner, J Shikany, SS Sidney, M Sims, CM Sitlani, T Sofer, K Strauch, MA Swertz, KD Taylor, AG Uitterlinden, CM van Duijn, H Völzke, M Waldenberger, RB Wallance, KW van Dijk, C Yu, AB Zonderman, DM Becker, P Elliott, T Esko, C Gieger, HJ Grabe, TA Lakka, T Lehtimäki, KE North, BWJH Penninx, P Vollenweider, LE Wagenknecht, T Wu, YB Xiang, W Zheng, DK Arnett, C Bouchard, MK Evans, V Gudnason, S Kardia, TN Kelly, SB Kritchevsky, RJF Loos, AC Pereira, M Province, BM Psaty, C Rotimi, X Zhu, N Amin, LA Cupples, M Fornage, EF Fox, X Guo, WJ Gauderman, K Rice, C Kooperberg, PB Munroe, CT Liu, AC Morrison, DC Rao, D van Heemst, S Redline
Publication Date: 2019-11-12

Variant appearance in text: rs11220462
PubMed Link: 31719535
Variant Present in the following documents:
  • 41467_2019_12958_MOESM7_ESM.xlsx
View BVdb publication page



Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs11220462
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Bayesian multivariate reanalysis of large genetic studies identifies many new associations.

Plos Genetics
MC Turchin, M Stephens
Publication Date: 2019-10

Variant appearance in text: rs11220462
PubMed Link: 31596850
Variant Present in the following documents:
  • pgen.1008431.s006.xls
  • pgen.1008431.s007.xls
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
R Tabassum, JT Rämö, P Ripatti, JT Koskela, M Kurki, J Karjalainen, P Palta, S Hassan, J Nunez-Fontarnau, TTJ Kiiskinen, S Söderlund, N Matikainen, MJ Gerl, MA Surma, C Klose, NO Stitziel, H Laivuori, AS Havulinna, SK Service, V Salomaa, M Pirinen, , M Jauhiainen, MJ Daly, NB Freimer, A Palotie, MR Taskinen, K Simons, S Ripatti
Publication Date: 2019-09-24

Variant appearance in text: rs11220462
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
K Kuchenbaecker, N Telkar, T Reiker, RG Walters, K Lin, A Eriksson, D Gurdasani, A Gilly, L Southam, E Tsafantakis, M Karaleftheri, J Seeley, A Kamali, G Asiki, IY Millwood, M Holmes, H Du, Y Guo, M Kumari, G Dedoussis, L Li, Z Chen, MS Sandhu, E Zeggini,
Publication Date: 2019-09-24

Variant appearance in text: rs11220462
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Robust methods in Mendelian randomization via penalization of heterogeneous causal estimates.

Plos One
JMB Rees, AM Wood, F Dudbridge, S Burgess
Publication Date: 2019

Variant appearance in text: rs11220462
PubMed Link: 31545794
Variant Present in the following documents:
  • pone.0222362.s001.pdf
View BVdb publication page



Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: rs11220462
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

Jama
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
Publication Date: 2019-01-29

Variant appearance in text: rs11220462
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
LA Lotta, ID Stewart, SJ Sharp, FR Day, S Burgess, J Luan, N Bowker, L Cai, C Li, LBL Wittemans, ND Kerrison, KT Khaw, MI McCarthy, S O'Rahilly, RA Scott, DB Savage, JRB Perry, C Langenberg, NJ Wareham
Publication Date: 2018-10-01

Variant appearance in text: rs11220462
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: rs11220462
PubMed Link: 29986042
Variant Present in the following documents:
  • pyy060_suppl_supplementary_tables.xlsx
View BVdb publication page



Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature Communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
Publication Date: 2018-07-04

Variant appearance in text: rs11220462
PubMed Link: 29973585
Variant Present in the following documents:
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM9_ESM.xlsx
View BVdb publication page



Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature Genetics
R Malik, G Chauhan, M Traylor, M Sargurupremraj, Y Okada, A Mishra, L Rutten-Jacobs, AK Giese, SW van der Laan, S Gretarsdottir, CD Anderson, M Chong, HHH Adams, T Ago, P Almgren, P Amouyel, H Ay, TM Bartz, OR Benavente, S Bevan, GB Boncoraglio, RD Brown, AS Butterworth, C Carrera, CL Carty, DI Chasman, WM Chen, JW Cole, A Correa, I Cotlarciuc, C Cruchaga, J Danesh, PIW de Bakker, AL DeStefano, M den Hoed, Q Duan, ST Engelter, GJ Falcone, RF Gottesman, RP Grewal, V Gudnason, S Gustafsson, J Haessler, TB Harris, A Hassan, AS Havulinna, SR Heckbert, EG Holliday, G Howard, FC Hsu, HI Hyacinth, MA Ikram, E Ingelsson, MR Irvin, X Jian, J Jiménez-Conde, JA Johnson, JW Jukema, M Kanai, KL Keene, BM Kissela, DO Kleindorfer, C Kooperberg, M Kubo, LA Lange, CD Langefeld, C Langenberg, LJ Launer, JM Lee, R Lemmens, D Leys, CM Lewis, WY Lin, AG Lindgren, E Lorentzen, PK Magnusson, J Maguire, A Manichaikul, PF McArdle, JF Meschia, BD Mitchell, TH Mosley, MA Nalls, T Ninomiya, MJ O'Donnell, BM Psaty, SL Pulit, K Rannikmäe, AP Reiner, KM Rexrode, K Rice, SS Rich, PM Ridker, NS Rost, PM Rothwell, JI Rotter, T Rundek, RL Sacco, S Sakaue, MM Sale, V Salomaa, BR Sapkota, R Schmidt, CO Schmidt, U Schminke, P Sharma, A Slowik, CLM Sudlow, C Tanislav, T Tatlisumak, KD Taylor, VNS Thijs, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet, C Tzourio, CM van Duijn, M Walters, NJ Wareham, S Wassertheil-Smoller, JG Wilson, KL Wiggins, Q Yang, S Yusuf, , , , , , JC Bis, T Pastinen, A Ruusalepp, EE Schadt, S Koplev, JLM Björkegren, V Codoni, M Civelek, NL Smith, DA Trégouët, IE Christophersen, C Roselli, SA Lubitz, PT Ellinor, ES Tai, JS Kooner, N Kato, J He, P van der Harst, P Elliott, JC Chambers, F Takeuchi, AD Johnson, , , , , , , , , , , DK Sanghera, O Melander, C Jern, D Strbian, I Fernandez-Cadenas, WT Longstreth, A Rolfs, J Hata, D Woo, J Rosand, G Pare, JC Hopewell, D Saleheen, K Stefansson, BB Worrall, SJ Kittner, S Seshadri, M Fornage, HS Markus, JMM Howson, Y Kamatani, S Debette, M Dichgans
Publication Date: 2018-04

Variant appearance in text: rs11220462
PubMed Link: 29531354
Variant Present in the following documents:
  • NIHMS959658-supplement-Supplementary_Table_27.xlsx
View BVdb publication page



Influence of obesity-related risk factors in the aetiology of glioma.

British Journal Of Cancer
L Disney-Hogg, A Sud, PJ Law, AJ Cornish, B Kinnersley, QT Ostrom, K Labreche, JE Eckel-Passow, GN Armstrong, EB Claus, D Il'yasova, J Schildkraut, JS Barnholtz-Sloan, SH Olson, JL Bernstein, RK Lai, AJ Swerdlow, M Simon, P Hoffmann, MM Nöthen, KH Jöckel, S Chanock, P Rajaraman, C Johansen, RB Jenkins, BS Melin, MR Wrensch, M Sanson, ML Bondy, RS Houlston
Publication Date: 2018-04

Variant appearance in text: rs11220462
PubMed Link: 29531326
Variant Present in the following documents:
  • 41416_2018_9_MOESM1_ESM.docx
  • 41416_2018_9_MOESM2_ESM.xlsx
View BVdb publication page



Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology
DE Haslam, NM McKeown, MA Herman, AH Lichtenstein, HS Dashti
Publication Date: 2017

Variant appearance in text: rs11220462
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Joint Influence of SNPs and DNA Methylation on Lipids in African Americans From Hypertensive Sibships.

Biological Research For Nursing
ML Wright, EB Ware, JA Smith, SLR Kardia, JY Taylor
Publication Date: 2018-03

Variant appearance in text: rs11220462
PubMed Link: 29338330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
JP Davis, JR Huyghe, AE Locke, AU Jackson, X Sim, HM Stringham, TM Teslovich, RP Welch, C Fuchsberger, N Narisu, PS Chines, AJ Kangas, P Soininen, M Ala-Korpela, J Kuusisto, FS Collins, M Laakso, M Boehnke, KL Mohlke
Publication Date: 2017-10

Variant appearance in text: rs11220462
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs11220462
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.

Diabetes
L Sobrin, YH Chong, Q Fan, A Gan, LK Stanwyck, G Kaidonis, JE Craig, J Kim, WL Liao, YC Huang, WJ Lee, YJ Hung, X Guo, Y Hai, E Ipp, S Pollack, H Hancock, A Price, A Penman, P Mitchell, G Liew, AV Smith, V Gudnason, G Tan, BEK Klein, J Kuo, X Li, MW Christiansen, BM Psaty, K Sandow, , RA Jensen, R Klein, MF Cotch, JJ Wang, Y Jia, CJ Chen, YI Chen, JI Rotter, FJ Tsai, CL Hanis, KP Burdon, TY Wong, CY Cheng
Publication Date: 2017-12

Variant appearance in text: rs11220462
PubMed Link: 28951389
Variant Present in the following documents:
  • DB170398SupplementaryData.pdf
View BVdb publication page



Evaluating the Causal Relation of ApoA-IV with Disease-Related Traits - A Bidirectional Two-sample Mendelian Randomization Study.

Scientific Reports
S Mack, S Coassin, J Vaucher, F Kronenberg, C Lamina,
Publication Date: 2017-08-18

Variant appearance in text: rs11220462
PubMed Link: 28821713
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.pdf
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske, E Kim, S Gee, A Rodriguez, R Muxel, N Matikainen, S Söderlund, MM Motazacker, J Borén, C Lamina, F Kronenberg, WJ Schneider, A Palotie, M Laakso, MR Taskinen, P Pajukanta
Publication Date: 2017-09

Variant appearance in text: rs11220462
PubMed Link: 28772107
Variant Present in the following documents:
  • Main text
  • NIHMS896854-supplement.pdf
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: rs11220462
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM2_ESM.xlsx
View BVdb publication page



Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial.

Peerj
SW Marvel, DM Rotroff, MJ Wagner, JB Buse, TM Havener, HL McLeod, AA Motsinger-Reif,
Publication Date: 2017

Variant appearance in text: rs11220462
PubMed Link: 28480134
Variant Present in the following documents:
  • peerj-05-3187-s002.xlsx
View BVdb publication page



Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human Molecular Genetics
N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty
Publication Date: 2016-12-15

Variant appearance in text: rs11220462
PubMed Link: 28426890
Variant Present in the following documents:
  • Main text
  • ddw358_supp.docx
View BVdb publication page



Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

International Journal Of Cancer
H Rodriguez-Broadbent, PJ Law, A Sud, K Palin, S Tuupanen, A Gylfe, UA Hänninen, T Cajuso, T Tanskanen, J Kondelin, E Kaasinen, AP Sarin, S Ripatti, JG Eriksson, H Rissanen, P Knekt, E Pukkala, P Jousilahti, V Salomaa, A Palotie, L Renkonen-Sinisalo, A Lepistö, J Böhm, JP Mecklin, NA Al-Tassan, C Palles, L Martin, E Barclay, SM Farrington, MN Timofeeva, BF Meyer, SM Wakil, H Campbell, CG Smith, S Idziaszczyk, TS Maughan, R Kaplan, R Kerr, D Kerr, MN Passarelli, JC Figueiredo, DD Buchanan, AK Win, JL Hopper, MA Jenkins, NM Lindor, PA Newcomb, S Gallinger, D Conti, F Schumacher, G Casey, LA Aaltonen, JP Cheadle, IP Tomlinson, MG Dunlop, RS Houlston
Publication Date: 2017-06-15

Variant appearance in text: rs11220462
PubMed Link: 28340513
Variant Present in the following documents:
  • NIHMS79344-supplement-Supplementary_Data.pdf
  • NIHMS79344-supplement-Supplementary_Material.pdf
View BVdb publication page



Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
S Christie, S Robiou-du-Pont, SS Anand, KM Morrison, SD McDonald, G Paré, SA Atkinson, KK Teo, D Meyre
Publication Date: 2017-03-06

Variant appearance in text: rs11220462
PubMed Link: 28250428
Variant Present in the following documents:
  • 41598_2017_102_MOESM1_ESM.pdf
View BVdb publication page



Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters.

Cell
BM Javierre, OS Burren, SP Wilder, R Kreuzhuber, SM Hill, S Sewitz, J Cairns, SW Wingett, C Várnai, MJ Thiecke, F Burden, S Farrow, AJ Cutler, K Rehnström, K Downes, L Grassi, M Kostadima, P Freire-Pritchett, F Wang, , HG Stunnenberg, JA Todd, DR Zerbino, O Stegle, WH Ouwehand, M Frontini, C Wallace, M Spivakov, P Fraser
Publication Date: 2016-11-17

Variant appearance in text: rs11220462
PubMed Link: 27863249
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Rooted in risk: genetic predisposition for low-density lipoprotein cholesterol level associates with diminished low-density lipoprotein cholesterol response to statin treatment.

Pharmacogenomics
RA Smit, I Postmus, S Trompet, MR Barnes, H Warren, BJ Arsenault, DI Chasman, LA Cupples, GA Hitman, RM Krauss, X Li, BM Psaty, CM Stein, JI Rotter, JW Jukema
Publication Date: 2016-10

Variant appearance in text: rs11220462
PubMed Link: 27648687
Variant Present in the following documents:
  • pgs-17-1621-s1.docx
View BVdb publication page



Genetic susceptibility to dyslipidemia and incidence of cardiovascular disease depending on a diet quality index in the Malmö Diet and Cancer cohort.

Genes & Nutrition
S Hellstrand, U Ericson, CA Schulz, I Drake, B Gullberg, B Hedblad, G Engström, M Orho-Melander, E Sonestedt
Publication Date: 2016

Variant appearance in text: rs11220462
PubMed Link: 27551321
Variant Present in the following documents:
  • 12263_2016_536_MOESM1_ESM.docx
View BVdb publication page



Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases.

Science (New York, N.Y.)
O Franzén, R Ermel, A Cohain, NK Akers, A Di Narzo, HA Talukdar, H Foroughi-Asl, C Giambartolomei, JF Fullard, K Sukhavasi, S Köks, LM Gan, C Giannarelli, JC Kovacic, C Betsholtz, B Losic, T Michoel, K Hao, P Roussos, J Skogsberg, A Ruusalepp, EE Schadt, JL Björkegren
Publication Date: 2016-08-19

Variant appearance in text: rs11220462
PubMed Link: 27540175
Variant Present in the following documents:
  • NIHMS865440-supplement-Figure_S41.pdf
View BVdb publication page



The Contribution of GWAS Loci in Familial Dyslipidemias.

Plos Genetics
P Ripatti, JT Rämö, S Söderlund, I Surakka, N Matikainen, M Pirinen, P Pajukanta, AP Sarin, SK Service, PP Laurila, C Ehnholm, V Salomaa, RK Wilson, A Palotie, NB Freimer, MR Taskinen, S Ripatti
Publication Date: 2016-05

Variant appearance in text: rs11220462
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
  • pgen.1006078.s009.pdf
View BVdb publication page



Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.

Atherosclerosis
AP Patel, GM Peloso, JP Pirruccello, CT Johansen, JB Dubé, DB Larach, MR Ban, GM Dallinge-Thie, N Gupta, M Boehnke, GR Abecasis, JJ Kastelein, GK Hovingh, RA Hegele, DJ Rader, S Kathiresan
Publication Date: 2016-07

Variant appearance in text: rs11220462
PubMed Link: 27182959
Variant Present in the following documents:
  • NIHMS787201-supplement.pdf
View BVdb publication page



Diet Quality and Change in Blood Lipids during 16 Years of Follow-up and Their Interaction with Genetic Risk for Dyslipidemia.

Nutrients
E Sonestedt, S Hellstrand, I Drake, CA Schulz, U Ericson, J Hlebowicz, MM Persson, B Gullberg, B Hedblad, G Engström, M Orho-Melander
Publication Date: 2016-05-09

Variant appearance in text: rs11220462
PubMed Link: 27171109
Variant Present in the following documents:
  • nutrients-08-00274-s001.doc
View BVdb publication page



Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants.

Aging
LC Pilling, JL Atkins, K Bowman, SE Jones, J Tyrrell, RN Beaumont, KS Ruth, MA Tuke, H Yaghootkar, AR Wood, RM Freathy, A Murray, MN Weedon, L Xue, K Lunetta, JM Murabito, LW Harries, JM Robine, C Brayne, GA Kuchel, L Ferrucci, TM Frayling, D Melzer
Publication Date: 2016-03

Variant appearance in text: rs11220462
PubMed Link: 27015805
Variant Present in the following documents:
  • aging-08-547-s003.docx
View BVdb publication page



Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
JE Below, EJ Parra, ER Gamazon, J Torres, S Krithika, S Candille, Y Lu, A Manichakul, J Peralta-Romero, Q Duan, Y Li, AP Morris, O Gottesman, E Bottinger, XQ Wang, KD Taylor, YD Ida Chen, JI Rotter, SS Rich, RJ Loos, H Tang, NJ Cox, M Cruz, CL Hanis, A Valladares-Salgado
Publication Date: 2016-01-19

Variant appearance in text: rs11220462
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s2.xls
View BVdb publication page



Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
CS Tang, H Zhang, CY Cheung, M Xu, JC Ho, W Zhou, SS Cherny, Y Zhang, O Holmen, KW Au, H Yu, L Xu, J Jia, RM Porsch, L Sun, W Xu, H Zheng, LY Wong, Y Mu, J Dou, CH Fong, S Wang, X Hong, L Dong, Y Liao, J Wang, LS Lam, X Su, H Yan, ML Yang, J Chen, CW Siu, G Xie, YC Woo, Y Wu, KC Tan, K Hveem, BM Cheung, S Zöllner, A Xu, Y Eugene Chen, CQ Jiang, Y Zhang, TH Lam, SK Ganesh, Y Huo, PC Sham, KS Lam, CJ Willer, HF Tse, W Gao
Publication Date: 2015-12-22

Variant appearance in text: rs11220462
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
View BVdb publication page



Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.

Nature Communications
FR Day, DA Hinds, JY Tung, L Stolk, U Styrkarsdottir, R Saxena, A Bjonnes, L Broer, DB Dunger, BV Halldorsson, DA Lawlor, G Laval, I Mathieson, WL McCardle, Y Louwers, C Meun, S Ring, RA Scott, P Sulem, AG Uitterlinden, NJ Wareham, U Thorsteinsdottir, C Welt, K Stefansson, JSE Laven, KK Ong, JRB Perry
Publication Date: 2015-09-29

Variant appearance in text: rs11220462
PubMed Link: 26416764
Variant Present in the following documents:
  • ncomms9464-s2.xlsx
View BVdb publication page



Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies.

Plos One
AM Kulminski, I Culminskaya, KG Arbeev, L Arbeeva, SV Ukraintseva, E Stallard, D Wu, AI Yashin
Publication Date: 2015

Variant appearance in text: rs11220462
PubMed Link: 26295473
Variant Present in the following documents:
  • Main text
  • pone.0136319.s004.pdf
  • pone.0136319.s005.pdf
  • pone.0136319.s008.pdf
  • pone.0136319.s009.pdf
View BVdb publication page



Differential Genetic Effects on Statin-Induced Changes Across Low-Density Lipoprotein-Related Measures.

Circulation. Cardiovascular Genetics
AY Chu, F Giulianini, BJ Barratt, B Ding, F Nyberg, S Mora, PM Ridker, DI Chasman
Publication Date: 2015-10

Variant appearance in text: rs11220462
PubMed Link: 26273092
Variant Present in the following documents:
  • NIHMS717334-supplement-000962_-_Supplemental_Material.pdf
View BVdb publication page



The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

Plos One
A Ferrarini, L Xumerle, F Griggio, M Garonzi, C Cantaloni, C Centomo, SM Vargas, P Descombes, J Marquis, S Collino, C Franceschi, P Garagnani, BA Salisbury, JM Harvey, M Delledonne
Publication Date: 2015

Variant appearance in text: rs11220462
PubMed Link: 26147798
Variant Present in the following documents:
  • pone.0132180.s006.xlsx
View BVdb publication page



Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European Journal Of Human Genetics : Ejhg
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
Publication Date: 2016-04

Variant appearance in text: rs11220462
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study.

Plos Medicine
SD Østergaard, S Mukherjee, SJ Sharp, P Proitsi, LA Lotta, F Day, JR Perry, KL Boehme, S Walter, JS Kauwe, LE Gibbons, , , , EB Larson, JF Powell, C Langenberg, PK Crane, NJ Wareham, RA Scott
Publication Date: 2015-06

Variant appearance in text: rs11220462
PubMed Link: 26079503
Variant Present in the following documents:
  • pmed.1001841.s014.xlsx
View BVdb publication page



Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.

Human Genetics
X Zhang, W Zhang, SL Saraf, M Nouraie, J Han, M Gowhari, J Hassan, G Miasnikova, A Sergueeva, S Nekhai, R Kittles, RF Machado, JG Garcia, MT Gladwin, MH Steinberg, P Sebastiani, DA McClain, VR Gordeuk
Publication Date: 2015-08

Variant appearance in text: rs11220462
PubMed Link: 26025476
Variant Present in the following documents:
  • NIHMS729106-supplement-Supplemental_Tables.xls
View BVdb publication page



The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan, V Lagou, L Marullo, T Ferreira, B Miraglio, S Timonen, J Kettunen, M Pirinen, J Karjalainen, G Thorleifsson, S Hägg, JJ Hottenga, A Isaacs, C Ladenvall, M Beekman, T Esko, JS Ried, CP Nelson, C Willenborg, S Gustafsson, HJ Westra, M Blades, AJ de Craen, EJ de Geus, J Deelen, H Grallert, A Hamsten, AS Havulinna, C Hengstenberg, JJ Houwing-Duistermaat, E Hyppönen, LC Karssen, T Lehtimäki, V Lyssenko, PK Magnusson, E Mihailov, M Müller-Nurasyid, JP Mpindi, NL Pedersen, BW Penninx, M Perola, TH Pers, A Peters, J Rung, JH Smit, V Steinthorsdottir, MD Tobin, N Tsernikova, EM van Leeuwen, JS Viikari, SM Willems, G Willemsen, H Schunkert, J Erdmann, NJ Samani, J Kaprio, L Lind, C Gieger, A Metspalu, PE Slagboom, L Groop, CM van Duijn, JG Eriksson, A Jula, V Salomaa, DI Boomsma, C Power, OT Raitakari, E Ingelsson, MR Järvelin, U Thorsteinsdottir, L Franke, E Ikonen, O Kallioniemi, V Pietiäinen, CM Lindgren, K Stefansson, A Palotie, MI McCarthy, AP Morris, I Prokopenko, S Ripatti,
Publication Date: 2015-06

Variant appearance in text: rs11220462
PubMed Link: 25961943
Variant Present in the following documents:
  • NIHMS67068-supplement-Supplementary_tables_1-7__9-14.docx
View BVdb publication page



Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
S Rodriguez, TR Gaunt, Y Guo, J Zheng, MR Barnes, W Tang, F Danish, A Johnson, BA Castillo, YR Li, H Hakonarson, SG Buxbaum, T Palmer, MY Tsai, LA Lange, S Ebrahim, G Davey Smith, DA Lawlor, AR Folsom, R Hoogeveen, A Reiner, B Keating, IN Day
Publication Date: 2016-01

Variant appearance in text: rs11220462
PubMed Link: 25920552
Variant Present in the following documents:
  • ejhg201563x1.doc
View BVdb publication page



The association between carbohydrate-rich foods and risk of cardiovascular disease is not modified by genetic susceptibility to dyslipidemia as determined by 80 validated variants.

Plos One
E Sonestedt, S Hellstrand, CA Schulz, P Wallström, I Drake, U Ericson, B Gullberg, B Hedblad, M Orho-Melander
Publication Date: 2015

Variant appearance in text: rs11220462
PubMed Link: 25898210
Variant Present in the following documents:
  • pone.0126104.s004.doc
View BVdb publication page



Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: rs11220462
PubMed Link: 25414277
Variant Present in the following documents:
  • NIHMS63163-supplement-Supplementary_Data.docx
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
B Benyamin, T Esko, JS Ried, A Radhakrishnan, SH Vermeulen, M Traglia, M Gögele, D Anderson, L Broer, C Podmore, J Luan, Z Kutalik, S Sanna, P van der Meer, T Tanaka, F Wang, HJ Westra, L Franke, E Mihailov, L Milani, J Hälldin, J Häldin, J Winkelmann, T Meitinger, J Thiery, A Peters, M Waldenberger, A Rendon, J Jolley, J Sambrook, LA Kiemeney, FC Sweep, CF Sala, C Schwienbacher, I Pichler, J Hui, A Demirkan, A Isaacs, N Amin, M Steri, G Waeber, N Verweij, JE Powell, DR Nyholt, AC Heath, PA Madden, PM Visscher, MJ Wright, GW Montgomery, NG Martin, D Hernandez, S Bandinelli, P van der Harst, M Uda, P Vollenweider, RA Scott, C Langenberg, NJ Wareham, , C van Duijn, J Beilby, PP Pramstaller, AA Hicks, WH Ouwehand, K Oexle, C Gieger, A Metspalu, C Camaschella, D Toniolo, DW Swinkels, JB Whitfield
Publication Date: 2014-10-29

Variant appearance in text: rs11220462
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer disease: a Mendelian randomization analysis.

Plos Medicine
P Proitsi, MK Lupton, L Velayudhan, S Newhouse, I Fogh, M Tsolaki, M Daniilidou, M Pritchard, I Kloszewska, H Soininen, P Mecocci, B Vellas, , J Williams, , R Stewart, P Sham, S Lovestone, JF Powell
Publication Date: 2014-09

Variant appearance in text: rs11220462
PubMed Link: 25226301
Variant Present in the following documents:
  • pmed.1001713.s003.xlsx
View BVdb publication page



Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan
Publication Date: 2014-10

Variant appearance in text: rs11220462
PubMed Link: 25170055
Variant Present in the following documents:
  • NIHMS664832-supplement-supplement.doc
View BVdb publication page



Association of the ST3GAL4 rs11220462 polymorphism and serum lipid levels in the Mulao and Han populations.

Lipids In Health And Disease
QZ Lin, RX Yin, T Guo, J Wu, JQ Sun, SW Shen, GY Shi, JZ Wu, CW Liu, SL Pan
Publication Date: 2014-08-03

Variant appearance in text: rs11220462
PubMed Link: 25086711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cis and trans effects of human genomic variants on gene expression.

Plos Genetics
J Bryois, A Buil, DM Evans, JP Kemp, SB Montgomery, DF Conrad, KM Ho, S Ring, M Hurles, P Deloukas, G Davey Smith, ET Dermitzakis
Publication Date: 2014-07

Variant appearance in text: rs11220462
PubMed Link: 25010687
Variant Present in the following documents:
  • pgen.1004461.s012.xlsx
View BVdb publication page



Strategies to fine-map genetic associations with lipid levels by combining epigenomic annotations and liver-specific transcription profiles.

Genomics
KS Lo, S Vadlamudi, MP Fogarty, KL Mohlke, G Lettre
Publication Date: 2014-08

Variant appearance in text: rs11220462
PubMed Link: 24997396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: rs11220462
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

Plos Genetics
TV Varga, E Sonestedt, D Shungin, RW Koivula, G Hallmans, SA Escher, I Barroso, P Nilsson, O Melander, M Orho-Melander, F Renström, PW Franks
Publication Date: 2014-06

Variant appearance in text: rs11220462
PubMed Link: 24922540
Variant Present in the following documents:
  • pgen.1004388.s001.xlsx
  • pgen.1004388.s003.xlsx
  • pgen.1004388.s005.pdf
View BVdb publication page



Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.

Plos Genetics
C Giambartolomei, D Vukcevic, EE Schadt, L Franke, AD Hingorani, C Wallace, V Plagnol
Publication Date: 2014-05

Variant appearance in text: rs11220462
PubMed Link: 24830394
Variant Present in the following documents:
  • pgen.1004383.s010.pdf
  • pgen.1004383.s011.pdf
View BVdb publication page



Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids.

Genome Medicine
SY Shin, AK Petersen, S Wahl, G Zhai, W Römisch-Margl, KS Small, A Döring, BS Kato, A Peters, E Grundberg, C Prehn, R Wang-Sattler, HE Wichmann, MH de Angelis, T Illig, J Adamski, P Deloukas, TD Spector, K Suhre, C Gieger, N Soranzo
Publication Date: 2014

Variant appearance in text: rs11220462
PubMed Link: 24678845
Variant Present in the following documents:
  • gm542-S1.xlsx
View BVdb publication page



Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
S Sayols-Baixeras, C Lluís-Ganella, G Lucas, R Elosua
Publication Date: 2014

Variant appearance in text: rs11220462
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biobanking across the phenome - at the center of chronic disease research.

Bmc Public Health
M Imboden, NM Probst-Hensch
Publication Date: 2013-11-25

Variant appearance in text: rs11220462
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
View BVdb publication page



Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, JR Field, JM Pulley, AH Ramirez, E Bowton, MA Basford, DS Carrell, PL Peissig, AN Kho, JA Pacheco, LV Rasmussen, DR Crosslin, PK Crane, J Pathak, SJ Bielinski, SA Pendergrass, H Xu, LA Hindorff, R Li, TA Manolio, CG Chute, RL Chisholm, EB Larson, GP Jarvik, MH Brilliant, CA McCarty, IJ Kullo, JL Haines, DC Crawford, DR Masys, DM Roden
Publication Date: 2013-12

Variant appearance in text: rs11220462
PubMed Link: 24270849
Variant Present in the following documents:
  • NIHMS561785-supplement-supplementary_data.pdf
View BVdb publication page



Discovery and refinement of loci associated with lipid levels.

Nature Genetics
CJ Willer, EM Schmidt, S Sengupta, GM Peloso, S Gustafsson, S Kanoni, A Ganna, J Chen, ML Buchkovich, S Mora, JS Beckmann, JL Bragg-Gresham, HY Chang, A Demirkan, HM Den Hertog, R Do, LA Donnelly, GB Ehret, T Esko, MF Feitosa, T Ferreira, K Fischer, P Fontanillas, RM Fraser, DF Freitag, D Gurdasani, K Heikkilä, E Hyppönen, A Isaacs, AU Jackson, Å Johansson, T Johnson, M Kaakinen, J Kettunen, ME Kleber, X Li, J Luan, LP Lyytikäinen, PKE Magnusson, M Mangino, E Mihailov, ME Montasser, M Müller-Nurasyid, IM Nolte, JR O'Connell, CD Palmer, M Perola, AK Petersen, S Sanna, R Saxena, SK Service, S Shah, D Shungin, C Sidore, C Song, RJ Strawbridge, I Surakka, T Tanaka, TM Teslovich, G Thorleifsson, EG Van den Herik, BF Voight, KA Volcik, LL Waite, A Wong, Y Wu, W Zhang, D Absher, G Asiki, I Barroso, LF Been, JL Bolton, LL Bonnycastle, P Brambilla, MS Burnett, G Cesana, M Dimitriou, ASF Doney, A Döring, P Elliott, SE Epstein, G Ingi Eyjolfsson, B Gigante, MO Goodarzi, H Grallert, ML Gravito, CJ Groves, G Hallmans, AL Hartikainen, C Hayward, D Hernandez, AA Hicks, H Holm, YJ Hung, T Illig, MR Jones, P Kaleebu, JJP Kastelein, KT Khaw, E Kim, N Klopp, P Komulainen, M Kumari, C Langenberg, T Lehtimäki, SY Lin, J Lindström, RJF Loos, F Mach, WL McArdle, C Meisinger, BD Mitchell, G Müller, R Nagaraja, N Narisu, TVM Nieminen, RN Nsubuga, I Olafsson, KK Ong, A Palotie, T Papamarkou, C Pomilla, A Pouta, DJ Rader, MP Reilly, PM Ridker, F Rivadeneira, I Rudan, A Ruokonen, N Samani, H Scharnagl, J Seeley, K Silander, A Stančáková, K Stirrups, AJ Swift, L Tiret, AG Uitterlinden, LJ van Pelt, S Vedantam, N Wainwright, C Wijmenga, SH Wild, G Willemsen, T Wilsgaard, JF Wilson, EH Young, JH Zhao, LS Adair, D Arveiler, TL Assimes, S Bandinelli, F Bennett, M Bochud, BO Boehm, DI Boomsma, IB Borecki, SR Bornstein, P Bovet, M Burnier, H Campbell, A Chakravarti, JC Chambers, YI Chen, FS Collins, RS Cooper, J Danesh, G Dedoussis, U de Faire, AB Feranil, J Ferrières, L Ferrucci, NB Freimer, C Gieger, LC Groop, V Gudnason, U Gyllensten, A Hamsten, TB Harris, A Hingorani, JN Hirschhorn, A Hofman, GK Hovingh, CA Hsiung, SE Humphries, SC Hunt, K Hveem, C Iribarren, MR Järvelin, A Jula, M Kähönen, J Kaprio, A Kesäniemi, M Kivimaki, JS Kooner, PJ Koudstaal, RM Krauss, D Kuh, J Kuusisto, KO Kyvik, M Laakso, TA Lakka, L Lind, CM Lindgren, NG Martin, W März, MI McCarthy, CA McKenzie, P Meneton, A Metspalu, L Moilanen, AD Morris, PB Munroe, I Njølstad, NL Pedersen, C Power, PP Pramstaller, JF Price, BM Psaty, T Quertermous, R Rauramaa, D Saleheen, V Salomaa, DK Sanghera, J Saramies, PEH Schwarz, WH Sheu, AR Shuldiner, A Siegbahn, TD Spector, K Stefansson, DP Strachan, BO Tayo, E Tremoli, J Tuomilehto, M Uusitupa, CM van Duijn, P Vollenweider, L Wallentin, NJ Wareham, JB Whitfield, BHR Wolffenbuttel, JM Ordovas, E Boerwinkle, CNA Palmer, U Thorsteinsdottir, DI Chasman, JI Rotter, PW Franks, S Ripatti, LA Cupples, MS Sandhu, SS Rich, M Boehnke, P Deloukas, S Kathiresan, KL Mohlke, E Ingelsson, GR Abecasis,
Publication Date: 2013-11

Variant appearance in text: rs11220462
PubMed Link: 24097068
Variant Present in the following documents:
  • NIHMS524703-supplement-1.pdf
View BVdb publication page



Common variants associated with plasma triglycerides and risk for coronary artery disease.

Nature Genetics
R Do, CJ Willer, EM Schmidt, S Sengupta, C Gao, GM Peloso, S Gustafsson, S Kanoni, A Ganna, J Chen, ML Buchkovich, S Mora, JS Beckmann, JL Bragg-Gresham, HY Chang, A Demirkan, HM Den Hertog, LA Donnelly, GB Ehret, T Esko, MF Feitosa, T Ferreira, K Fischer, P Fontanillas, RM Fraser, DF Freitag, D Gurdasani, K Heikkilä, E Hyppönen, A Isaacs, AU Jackson, A Johansson, T Johnson, M Kaakinen, J Kettunen, ME Kleber, X Li, J Luan, LP Lyytikäinen, PK Magnusson, M Mangino, E Mihailov, ME Montasser, M Müller-Nurasyid, IM Nolte, JR O'Connell, CD Palmer, M Perola, AK Petersen, S Sanna, R Saxena, SK Service, S Shah, D Shungin, C Sidore, C Song, RJ Strawbridge, I Surakka, T Tanaka, TM Teslovich, G Thorleifsson, EG Van den Herik, BF Voight, KA Volcik, LL Waite, A Wong, Y Wu, W Zhang, D Absher, G Asiki, I Barroso, LF Been, JL Bolton, LL Bonnycastle, P Brambilla, MS Burnett, G Cesana, M Dimitriou, AS Doney, A Döring, P Elliott, SE Epstein, GI Eyjolfsson, B Gigante, MO Goodarzi, H Grallert, ML Gravito, CJ Groves, G Hallmans, AL Hartikainen, C Hayward, D Hernandez, AA Hicks, H Holm, YJ Hung, T Illig, MR Jones, P Kaleebu, JJ Kastelein, KT Khaw, E Kim, N Klopp, P Komulainen, M Kumari, C Langenberg, T Lehtimäki, SY Lin, J Lindström, RJ Loos, F Mach, WL McArdle, C Meisinger, BD Mitchell, G Müller, R Nagaraja, N Narisu, TV Nieminen, RN Nsubuga, I Olafsson, KK Ong, A Palotie, T Papamarkou, C Pomilla, A Pouta, DJ Rader, MP Reilly, PM Ridker, F Rivadeneira, I Rudan, A Ruokonen, N Samani, H Scharnagl, J Seeley, K Silander, A Stančáková, K Stirrups, AJ Swift, L Tiret, AG Uitterlinden, LJ van Pelt, S Vedantam, N Wainwright, C Wijmenga, SH Wild, G Willemsen, T Wilsgaard, JF Wilson, EH Young, JH Zhao, LS Adair, D Arveiler, TL Assimes, S Bandinelli, F Bennett, M Bochud, BO Boehm, DI Boomsma, IB Borecki, SR Bornstein, P Bovet, M Burnier, H Campbell, A Chakravarti, JC Chambers, YD Chen, FS Collins, RS Cooper, J Danesh, G Dedoussis, U de Faire, AB Feranil, J Ferrières, L Ferrucci, NB Freimer, C Gieger, LC Groop, V Gudnason, U Gyllensten, A Hamsten, TB Harris, A Hingorani, JN Hirschhorn, A Hofman, GK Hovingh, CA Hsiung, SE Humphries, SC Hunt, K Hveem, C Iribarren, MR Järvelin, A Jula, M Kähönen, J Kaprio, A Kesäniemi, M Kivimaki, JS Kooner, PJ Koudstaal, RM Krauss, D Kuh, J Kuusisto, KO Kyvik, M Laakso, TA Lakka, L Lind, CM Lindgren, NG Martin, W März, MI McCarthy, CA McKenzie, P Meneton, A Metspalu, L Moilanen, AD Morris, PB Munroe, I Njølstad, NL Pedersen, C Power, PP Pramstaller, JF Price, BM Psaty, T Quertermous, R Rauramaa, D Saleheen, V Salomaa, DK Sanghera, J Saramies, PE Schwarz, WH Sheu, AR Shuldiner, A Siegbahn, TD Spector, K Stefansson, DP Strachan, BO Tayo, E Tremoli, J Tuomilehto, M Uusitupa, CM van Duijn, P Vollenweider, L Wallentin, NJ Wareham, JB Whitfield, BH Wolffenbuttel, D Altshuler, JM Ordovas, E Boerwinkle, CN Palmer, U Thorsteinsdottir, DI Chasman, JI Rotter, PW Franks, S Ripatti, LA Cupples, MS Sandhu, SS Rich, M Boehnke, P Deloukas, KL Mohlke, E Ingelsson, GR Abecasis, MJ Daly, BM Neale, S Kathiresan
Publication Date: 2013-11

Variant appearance in text: rs11220462
PubMed Link: 24097064
Variant Present in the following documents:
  • NIHMS524704-supplement-1.pdf
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: rs11220462
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
View BVdb publication page



Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

Journal Of Medical Genetics
D Weissglas-Volkov, CA Aguilar-Salinas, E Nikkola, KA Deere, I Cruz-Bautista, O Arellano-Campos, LL Muñoz-Hernandez, L Gomez-Munguia, ML Ordoñez-Sánchez, PM Reddy, AJ Lusis, N Matikainen, MR Taskinen, L Riba, RM Cantor, JS Sinsheimer, T Tusie-Luna, P Pajukanta
Publication Date: 2013-05

Variant appearance in text: rs11220462
PubMed Link: 23505323
Variant Present in the following documents:
  • NIHMS454100-supplement-Supplementary_Table6.xls
View BVdb publication page



Progress in genetic association studies of plasma lipids.

Current Opinion In Lipidology
FW Asselbergs, RC Lovering, F Drenos
Publication Date: 2013-04

Variant appearance in text: rs11220462
PubMed Link: 23385652
Variant Present in the following documents:
  • colip-24-123-s001.pdf
View BVdb publication page



Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal Of Investigative Dermatology
Y Lu, H Chen, P Nikamo, H Qi Low, C Helms, M Seielstad, J Liu, AM Bowcock, M Stahle, W Liao
Publication Date: 2013-03

Variant appearance in text: rs11220462
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
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Variants identified in a GWAS meta-analysis for blood lipids are associated with the lipid response to fenofibrate.

Plos One
S Aslibekyan, MO Goodarzi, AC Frazier-Wood, X Yan, MR Irvin, E Kim, HK Tiwari, X Guo, RJ Straka, KD Taylor, MY Tsai, PN Hopkins, SG Korenman, IB Borecki, YD Chen, JM Ordovas, JI Rotter, DK Arnett
Publication Date: 2012

Variant appearance in text: rs11220462
PubMed Link: 23119086
Variant Present in the following documents:
  • pone.0048663.s002.doc
  • pone.0048663.s003.doc
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: rs11220462
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc9.xls
View BVdb publication page



Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.

Pharmacogenetics And Genomics
AC Frazier-Wood, S Aslibekyan, IB Borecki, PN Hopkins, CQ Lai, JM Ordovas, RJ Straka, HK Tiwari, DK Arnett
Publication Date: 2012-10

Variant appearance in text: rs11220462
PubMed Link: 22890011
Variant Present in the following documents:
  • NIHMS487636-supplement-Supplementary_data.docx
View BVdb publication page



Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
G Lucas, C Lluís-Ganella, I Subirana, MD Musameh, JR Gonzalez, CP Nelson, M Sentí, , , SM Schwartz, D Siscovick, CJ O'Donnell, O Melander, V Salomaa, S Purcell, D Altshuler, NJ Samani, S Kathiresan, R Elosua
Publication Date: 2012

Variant appearance in text: rs11220462
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
View BVdb publication page



Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.

Lancet (London, England)
BF Voight, GM Peloso, M Orho-Melander, R Frikke-Schmidt, M Barbalic, MK Jensen, G Hindy, H Hólm, EL Ding, T Johnson, H Schunkert, NJ Samani, R Clarke, JC Hopewell, JF Thompson, M Li, G Thorleifsson, C Newton-Cheh, K Musunuru, JP Pirruccello, D Saleheen, L Chen, A Stewart, A Schillert, U Thorsteinsdottir, G Thorgeirsson, S Anand, JC Engert, T Morgan, J Spertus, M Stoll, K Berger, N Martinelli, D Girelli, PP McKeown, CC Patterson, SE Epstein, J Devaney, MS Burnett, V Mooser, S Ripatti, I Surakka, MS Nieminen, J Sinisalo, ML Lokki, M Perola, A Havulinna, U de Faire, B Gigante, E Ingelsson, T Zeller, P Wild, PI de Bakker, OH Klungel, AH Maitland-van der Zee, BJ Peters, A de Boer, DE Grobbee, PW Kamphuisen, VH Deneer, CC Elbers, NC Onland-Moret, MH Hofker, C Wijmenga, WM Verschuren, JM Boer, YT van der Schouw, A Rasheed, P Frossard, S Demissie, C Willer, R Do, JM Ordovas, GR Abecasis, M Boehnke, KL Mohlke, MJ Daly, C Guiducci, NP Burtt, A Surti, E Gonzalez, S Purcell, S Gabriel, J Marrugat, J Peden, J Erdmann, P Diemert, C Willenborg, IR König, M Fischer, C Hengstenberg, A Ziegler, I Buysschaert, D Lambrechts, F Van de Werf, KA Fox, NE El Mokhtari, D Rubin, J Schrezenmeir, S Schreiber, A Schäfer, J Danesh, S Blankenberg, R Roberts, R McPherson, H Watkins, AS Hall, K Overvad, E Rimm, E Boerwinkle, A Tybjaerg-Hansen, LA Cupples, MP Reilly, O Melander, PM Mannucci, D Ardissino, D Siscovick, R Elosua, K Stefansson, CJ O'Donnell, V Salomaa, DJ Rader, L Peltonen, SM Schwartz, D Altshuler, S Kathiresan
Publication Date: 2012-08-11

Variant appearance in text: rs11220462
PubMed Link: 22607825
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Evidence of differential allelic effects between adolescents and adults for plasma high-density lipoprotein.

Plos One
RP Middelberg, AC Heath, PA Madden, GW Montgomery, NG Martin, JB Whitfield
Publication Date: 2012

Variant appearance in text: rs11220462
PubMed Link: 22530058
Variant Present in the following documents:
  • pone.0035605.s009.pdf
  • pone.0035605.s010.pdf
  • pone.0035605.s011.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227495.6 c.-61+18215G>A - intron_variant - 1/10
ENST00000356132.4 c.-61+18215G>A - intron_variant - 1/10
ENST00000444328.2 c.-61+18215G>A - intron_variant - 1/10
ENST00000530591.1 c.-61+17755G>A - intron_variant - 1/10
ENST00000531217.1 c.-61+18215G>A - intron_variant,NMD_transcript_variant - 1/9
ENST00000534083.1 c.-61+17755G>A - intron_variant - 1/10
ENST00000534733.2 c.87+15546G>A - intron_variant,NMD_transcript_variant - 2/4
NM_001254757.2 c.-61+18215G>A - intron_variant - 1/10
NM_001348396.2 c.3+15709G>A - intron_variant - 2/11
NM_001348397.2 c.3+15709G>A - intron_variant - 2/11
NM_001348398.2 c.-61+18215G>A - intron_variant - 1/10
NM_001348399.2 c.-61+17755G>A - intron_variant - 1/10
NM_001348400.2 c.-61+18215G>A - intron_variant - 1/10
NM_006278.3 c.-61+17755G>A - intron_variant - 1/10
NR_145671.2 n.157+18215G>A - intron_variant,non_coding_transcript_variant - 1/10