Variant ID: 2-44072576-G-T

NM_022437.2(ABCG8):c.166-718G>T

This variant was identified in 104 publications




Publications:


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: rs4299376
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

European Heart Journal
A Helgadottir, G Thorleifsson, KF Alexandersson, V Tragante, M Thorsteinsdottir, FF Eiriksson, S Gretarsdottir, E Björnsson, O Magnusson, G Sveinbjornsson, I Jonsdottir, V Steinthorsdottir, E Ferkingstad, BÖ Jensson, H Stefansson, I Olafsson, AH Christensen, C Torp-Pedersen, L Køber, OB Pedersen, C Erikstrup, E Sørensen, S Brunak, K Banasik, TF Hansen, M Nyegaard, GI Eyjolfssson, O Sigurdardottir, BL Thorarinsson, SE Matthiasson, T Steingrimsdottir, ES Bjornsson, R Danielsen, FW Asselbergs, DO Arnar, H Ullum, H Bundgaard, P Sulem, U Thorsteinsdottir, G Thorgeirsson, H Holm, DF Gudbjartsson, K Stefansson
Publication Date: 2020-07-21

Variant appearance in text: rs4299376
PubMed Link: 32702746
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
A Mickiewicz, M Futema, A Ćwiklinska, A Kuchta, M Jankowski, M Kaszubowski, M Chmara, B Wasąg, M Fijałkowski, M Jaguszewski, SE Humphries, M Gruchała
Publication Date: 2020-05-20

Variant appearance in text: rs4299376
PubMed Link: 32443900
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
LG Leal, C Hoggart, MR Jarvelin, KH Herzig, MJE Sternberg, A David
Publication Date: 2020-06

Variant appearance in text: rs4299376
PubMed Link: 32307928
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: rs4299376
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: rs4299376
PubMed Link: 32040442
Variant Present in the following documents:
  • Main text
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: rs4299376
PubMed Link: 31719535
Variant Present in the following documents:
  • 41467_2019_12958_MOESM7_ESM.xlsx
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: rs4299376
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: rs4299376
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
  • 41467_2019_11954_MOESM6_ESM.xlsx
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: rs4299376
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

Nature Communications
TO Kilpeläinen, AR Bentley, R Noordam, YJ Sung, K Schwander, TW Winkler, H Jakupović, DI Chasman, A Manning, I Ntalla, H Aschard, MR Brown, L de Las Fuentes, N Franceschini, X Guo, D Vojinovic, S Aslibekyan, MF Feitosa, M Kho, SK Musani, M Richard, H Wang, Z Wang, TM Bartz, LF Bielak, A Campbell, R Dorajoo, V Fisher, FP Hartwig, ARVR Horimoto, C Li, KK Lohman, J Marten, X Sim, AV Smith, SM Tajuddin, M Alver, M Amini, M Boissel, JF Chai, X Chen, J Divers, E Evangelou, C Gao, M Graff, SE Harris, M He, FC Hsu, AU Jackson, JH Zhao, AT Kraja, B Kühnel, F Laguzzi, LP Lyytikäinen, IM Nolte, R Rauramaa, M Riaz, A Robino, R Rueedi, HM Stringham, F Takeuchi, PJ van der Most, TV Varga, N Verweij, EB Ware, W Wen, X Li, LR Yanek, N Amin, DK Arnett, E Boerwinkle, M Brumat, B Cade, M Canouil, YI Chen, MP Concas, J Connell, R de Mutsert, HJ de Silva, PS de Vries, A Demirkan, J Ding, CB Eaton, JD Faul, Y Friedlander, KP Gabriel, M Ghanbari, F Giulianini, CC Gu, D Gu, TB Harris, J He, S Heikkinen, CK Heng, SC Hunt, MA Ikram, JB Jonas, WP Koh, P Komulainen, JE Krieger, SB Kritchevsky, Z Kutalik, J Kuusisto, CD Langefeld, C Langenberg, LJ Launer, K Leander, RN Lemaitre, CE Lewis, J Liang, , J Liu, R Mägi, A Manichaikul, T Meitinger, A Metspalu, Y Milaneschi, KL Mohlke, TH Mosley, AD Murray, MA Nalls, EK Nang, CP Nelson, S Nona, JM Norris, CV Nwuba, J O'Connell, ND Palmer, GJ Papanicolau, R Pazoki, NL Pedersen, A Peters, PA Peyser, O Polasek, DJ Porteous, A Poveda, OT Raitakari, SS Rich, N Risch, JG Robinson, LM Rose, I Rudan, PJ Schreiner, RA Scott, SS Sidney, M Sims, JA Smith, H Snieder, T Sofer, JM Starr, B Sternfeld, K Strauch, H Tang, KD Taylor, MY Tsai, J Tuomilehto, AG Uitterlinden, MY van der Ende, D van Heemst, T Voortman, M Waldenberger, P Wennberg, G Wilson, YB Xiang, J Yao, C Yu, JM Yuan, W Zhao, AB Zonderman, DM Becker, M Boehnke, DW Bowden, U de Faire, IJ Deary, P Elliott, T Esko, BI Freedman, P Froguel, P Gasparini, C Gieger, N Kato, M Laakso, TA Lakka, T Lehtimäki, PKE Magnusson, AJ Oldehinkel, BWJH Penninx, NJ Samani, XO Shu, P van der Harst, JV Van Vliet-Ostaptchouk, P Vollenweider, LE Wagenknecht, YX Wang, NJ Wareham, DR Weir, T Wu, W Zheng, X Zhu, MK Evans, PW Franks, V Gudnason, C Hayward, BL Horta, TN Kelly, Y Liu, KE North, AC Pereira, PM Ridker, ES Tai, RM van Dam, ER Fox, SLR Kardia, CT Liu, DO Mook-Kanamori, MA Province, S Redline, CM van Duijn, JI Rotter, CB Kooperberg, WJ Gauderman, BM Psaty, K Rice, PB Munroe, M Fornage, LA Cupples, CN Rotimi, AC Morrison, DC Rao, RJF Loos
Publication Date: 2019-01-22

Variant appearance in text: rs4299376
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM13_ESM.xlsx
View BVdb publication page



Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications
E Ferkingstad, A Oddsson, S Gretarsdottir, S Benonisdottir, G Thorleifsson, AM Deaton, S Jonsson, OA Stefansson, GL Norddahl, F Zink, GA Arnadottir, B Gunnarsson, GH Halldorsson, A Helgadottir, BO Jensson, RP Kristjansson, G Sveinbjornsson, DA Sverrisson, G Masson, I Olafsson, GI Eyjolfsson, O Sigurdardottir, H Holm, I Jonsdottir, S Olafsson, T Steingrimsdottir, T Rafnar, ES Bjornsson, U Thorsteinsdottir, DF Gudbjartsson, P Sulem, K Stefansson
Publication Date: 2018-11-30

Variant appearance in text: rs4299376
PubMed Link: 30504769
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
View BVdb publication page



Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Journal Of The American Heart Association
S Tuteja, L Qu, M Vujkovic, RL Dunbar, J Chen, S DerOhannessian, DJ Rader
Publication Date: 2018-10-02

Variant appearance in text: rs4299376
PubMed Link: 30371334
Variant Present in the following documents:
  • Main text
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: rs4299376
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: rs4299376
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: rs4299376
PubMed Link: 29973585
Variant Present in the following documents:
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_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



Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence.

Circulation. Genomic And Precision Medicine
G Hindy, F Wiberg, P Almgren, O Melander, M Orho-Melander
Publication Date: 2018-01

Variant appearance in text: rs4299376
PubMed Link: 29874179
Variant Present in the following documents:
  • hcg-11-e001856-s001.pdf
View BVdb publication page



The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.

Molecular Metabolism
J Hebebrand, T Peters, D Schijven, M Hebebrand, C Grasemann, TW Winkler, IM Heid, J Antel, M Föcker, L Tegeler, L Brauner, RAH Adan, JJ Luykx, CU Correll, IR König, A Hinney, L Libuda
Publication Date: 2018-06

Variant appearance in text: rs4299376
PubMed Link: 29673576
Variant Present in the following documents:
  • mmc1.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: rs4299376
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: rs4299376
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: rs4299376
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
AN Cheema, SL Rosenthal, M Ilyas Kamboh
Publication Date: 2017-01-01

Variant appearance in text: rs4299376
PubMed Link: 29220472
Variant Present in the following documents:
  • bax078_supp_table_s2.docx
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: rs4299376
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.

Nature Communications
MA Hall, J Wallace, A Lucas, D Kim, AO Basile, SS Verma, CA McCarty, MH Brilliant, PL Peissig, TE Kitchner, A Verma, SA Pendergrass, SM Dudek, JH Moore, MD Ritchie
Publication Date: 2017-10-27

Variant appearance in text: rs4299376
PubMed Link: 29079728
Variant Present in the following documents:
  • 41467_2017_802_MOESM10_ESM.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: rs4299376
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: rs4299376
PubMed Link: 28821713
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.pdf
View BVdb publication page



Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

Plos One
A Yeo, L Li, L Warren, J Aponte, D Fraser, K King, K Johansson, A Barnes, C MacPhee, R Davies, S Chissoe, E Tarka, ML O'Donoghue, HD White, L Wallentin, D Waterworth
Publication Date: 2017

Variant appearance in text: rs4299376
PubMed Link: 28753643
Variant Present in the following documents:
  • pone.0182115.s015.xlsx
  • pone.0182115.s016.xlsx
View BVdb publication page



A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design.

European Journal Of Human Genetics : Ejhg
JR Staley, E Jones, S Kaptoge, AS Butterworth, MJ Sweeting, AM Wood, JMM Howson
Publication Date: 2017-06

Variant appearance in text: rs4299376
PubMed Link: 28594416
Variant Present in the following documents:
  • Main text
  • ejhg201778x1.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: rs4299376
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries
Publication Date: 2017-08

Variant appearance in text: rs4299376
PubMed Link: 28549500
Variant Present in the following documents:
  • Main text
  • mmc1.docx
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: rs4299376
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: rs4299376
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



A genetic risk score for CAD, psychological stress, and their interaction as predictors of CAD, fatal MI, non-fatal MI and cardiovascular death.

Plos One
T Svensson, M Kitlinski, G Engström, O Melander
Publication Date: 2017

Variant appearance in text: rs4299376
PubMed Link: 28426714
Variant Present in the following documents:
  • pone.0176029.s001.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: rs4299376
PubMed Link: 28340513
Variant Present in the following documents:
  • NIHMS79344-supplement-Supplementary_Data.pdf
  • NIHMS79344-supplement-Supplementary_Material.pdf
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward
Publication Date: 2017-03-07

Variant appearance in text: rs4299376
PubMed Link: 28270201
Variant Present in the following documents:
  • 13073_2017_414_MOESM11_ESM.xlsx
View BVdb publication page



Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program.

Circulation. Cardiovascular Genetics
TV Varga, AH Winters, KA Jablonski, ES Horton, P Khare-Ranade, WC Knowler, SM Marcovina, F Renström, KE Watson, R Goldberg, JC Florez, TI Pollin, PW Franks
Publication Date: 2016-12

Variant appearance in text: rs4299376
PubMed Link: 27784733
Variant Present in the following documents:
  • NIHMS825913-supplement-001457_-_Supplemental_Material.pdf
View BVdb publication page



Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.

Jama
LA Lotta, SJ Sharp, S Burgess, JRB Perry, ID Stewart, SM Willems, J Luan, E Ardanaz, L Arriola, B Balkau, H Boeing, P Deloukas, NG Forouhi, PW Franks, S Grioni, R Kaaks, TJ Key, C Navarro, PM Nilsson, K Overvad, D Palli, S Panico, JR Quirós, E Riboli, O Rolandsson, C Sacerdote, EC Salamanca, N Slimani, AM Spijkerman, A Tjonneland, R Tumino, DL van der A, YT van der Schouw, MI McCarthy, I Barroso, S O'Rahilly, DB Savage, N Sattar, C Langenberg, RA Scott, NJ Wareham
Publication Date: 2016-10-04

Variant appearance in text: rs4299376
PubMed Link: 27701660
Variant Present in the following documents:
  • Main text
  • NIHMS71839-supplement-Supplementary_information.docx
View BVdb publication page



Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, AE Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, SY Shin, L Southam, M Traglia, F van Dijk, EM van Leeuwen, G Zaza, W Zhang, , N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
Publication Date: 2016-11

Variant appearance in text: rs4299376
PubMed Link: 27668658
Variant Present in the following documents:
  • NIHMS71079-supplement-Supplementary_Data.pdf
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
PubMed Link: 27171109
Variant Present in the following documents:
  • nutrients-08-00274-s001.doc
View BVdb publication page



Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.

Gastroenterology
AD Joshi, C Andersson, S Buch, S Stender, R Noordam, LC Weng, PE Weeke, PL Auer, B Boehm, C Chen, H Choi, G Curhan, JC Denny, I De Vivo, JD Eicher, D Ellinghaus, AR Folsom, C Fuchs, M Gala, J Haessler, A Hofman, F Hu, DJ Hunter, HL Janssen, JH Kang, C Kooperberg, P Kraft, W Kratzer, W Lieb, PL Lutsey, S Darwish Murad, BG Nordestgaard, LR Pasquale, AP Reiner, PM Ridker, E Rimm, LM Rose, CM Shaffer, C Schafmayer, RM Tamimi, AG Uitterlinden, U Völker, H Völzke, Y Wakabayashi, JL Wiggs, J Zhu, DM Roden, BH Stricker, W Tang, A Teumer, J Hampe, A Tybjærg-Hansen, DI Chasman, AT Chan, AD Johnson
Publication Date: 2016-08

Variant appearance in text: rs4299376
PubMed Link: 27094239
Variant Present in the following documents:
  • Main text
  • NIHMS779442-supplement-01.pdf
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: rs4299376
PubMed Link: 27015805
Variant Present in the following documents:
  • aging-08-547-s003.docx
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: rs4299376
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
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: rs4299376
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: rs4299376
PubMed Link: 26416764
Variant Present in the following documents:
  • ncomms9464-s2.xlsx
View BVdb publication page



Discovering Genetic Interactions in Large-Scale Association Studies by Stage-wise Likelihood Ratio Tests.

Plos Genetics
M Frånberg, K Gertow, A Hamsten, , J Lagergren, B Sennblad
Publication Date: 2015-09

Variant appearance in text: rs4299376
PubMed Link: 26402789
Variant Present in the following documents:
  • pgen.1005502.s012.pdf
View BVdb publication page



Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Nature Genetics
C Sidore, F Busonero, A Maschio, E Porcu, S Naitza, M Zoledziewska, A Mulas, G Pistis, M Steri, F Danjou, A Kwong, VD Ortega Del Vecchyo, CWK Chiang, J Bragg-Gresham, M Pitzalis, R Nagaraja, B Tarrier, C Brennan, S Uzzau, C Fuchsberger, R Atzeni, F Reinier, R Berutti, J Huang, NJ Timpson, D Toniolo, P Gasparini, G Malerba, G Dedoussis, E Zeggini, N Soranzo, C Jones, R Lyons, A Angius, HM Kang, J Novembre, S Sanna, D Schlessinger, F Cucca, GR Abecasis
Publication Date: 2015-11

Variant appearance in text: rs4299376
PubMed Link: 26366554
Variant Present in the following documents:
  • NIHMS64133-supplement-1.docx
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
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: rs4299376
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
  • 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: rs4299376
PubMed Link: 25898210
Variant Present in the following documents:
  • pone.0126104.s004.doc
View BVdb publication page



Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding.

Plos Genetics
ME Reschen, KJ Gaulton, D Lin, EJ Soilleux, AJ Morris, SS Smyth, CA O'Callaghan
Publication Date: 2015-04

Variant appearance in text: rs4299376
PubMed Link: 25835000
Variant Present in the following documents:
  • pgen.1005061.s008.xlsx
View BVdb publication page



GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.

Atherosclerosis
M den Hoed, RJ Strawbridge, P Almgren, S Gustafsson, T Axelsson, G Engström, U de Faire, B Hedblad, SE Humphries, CM Lindgren, AP Morris, G Östling, AC Syvänen, E Tremoli, A Hamsten, E Ingelsson, O Melander, L Lind
Publication Date: 2015-04

Variant appearance in text: rs4299376
PubMed Link: 25682028
Variant Present in the following documents:
  • NIHMS73492-supplement-Supplement.pdf
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: rs4299376
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s015.docx
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: rs4299376
PubMed Link: 25414277
Variant Present in the following documents:
  • Main text
  • 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: rs4299376
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: rs4299376
PubMed Link: 25226301
Variant Present in the following documents:
  • pmed.1001713.s003.xlsx
View BVdb publication page



A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.

Plos One
C Lamina, M Haun, S Coassin, A Kloss-Brandstätter, C Gieger, A Peters, H Grallert, K Strauch, T Meitinger, L Kedenko, B Paulweber, F Kronenberg
Publication Date: 2014

Variant appearance in text: rs4299376
PubMed Link: 25050552
Variant Present in the following documents:
  • Main text
  • pone.0102113.s001.pdf
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: rs4299376
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: rs4299376
PubMed Link: 24922540
Variant Present in the following documents:
  • Main text
  • pgen.1004388.s001.xlsx
  • pgen.1004388.s002.xlsx
  • pgen.1004388.s003.xlsx
  • pgen.1004388.s004.xlsx
  • pgen.1004388.s005.pdf
View BVdb publication page



Genetic predisposition scores for dyslipidaemia influence plasma lipid concentrations at baseline, but not the changes after controlled intake of n-3 polyunsaturated fatty acids.

Genes & Nutrition
A AlSaleh, Z Maniou, FJ Lewis, WL Hall, TA Sanders, SD O'Dell
Publication Date: 2014-07

Variant appearance in text: rs4299376
PubMed Link: 24890013
Variant Present in the following documents:
  • 12263_2014_412_MOESM1_ESM.pdf
  • 12263_2014_412_MOESM2_ESM.pdf
  • 12263_2014_412_MOESM3_ESM.pdf
  • 12263_2014_412_MOESM4_ESM.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000272286.2 c.166-718G>T - intron_variant - 2/12
NM_001357321.2 c.166-718G>T - intron_variant - 2/12
NM_022437.3 c.166-718G>T - intron_variant - 2/12