Variant ID: 16-67928042-G-A

NM_006742.3(PSKH1):c.-71+768G>A

This variant was identified in 90 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.

Genes
A Huerta-Chagoya, H Moreno-Macías, M Sevilla-González, R Rodríguez-Guillén, ML Ordóñez-Sánchez, D Gómez-Velasco, L Muñóz-Hernández, Y Segura-Kato, O Arellano-Campos, I Cruz-Bautista, CA Aguilar-Salinas, T Tusié-Luna
Publication Date: 2020-01-20

Variant appearance in text: rs16942887
PubMed Link: 31968565
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page


Genetic determinants of blood lipids and cerebral small vessel disease: role of high-density lipoprotein cholesterol.

Brain : A Journal Of Neurology
MK Georgakis, R Malik, CD Anderson, KG Parhofer, JC Hopewell, M Dichgans
Publication Date: 2020-02-01

Variant appearance in text: rs16942887
PubMed Link: 31968102
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page


A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function.

Diabetes
F Casanova, AR Wood, H Yaghootkar, RN Beaumont, SE Jones, KM Gooding, K Aizawa, WD Strain, AT Hattersley, F Khan, AC Shore, TM Frayling, J Tyrrell
Publication Date: 2020-05

Variant appearance in text: rs16942887
PubMed Link: 31915152
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
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: rs16942887
PubMed Link: 31719535
PubMed Central Link
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: rs16942887
PubMed Link: 31596850
PubMed Central Link
Variant Present in the following documents:
  • pgen.1008431.s007.xls
  • pgen.1008431.s006.xls
View BVdb publication page


Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
AM Kulminski, Y Loika, A Nazarian, I Culminskaya
Publication Date: 2020-09-25

Variant appearance in text: rs16942887
PubMed Link: 31566214
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs16942887
PubMed Link: 31551469
PubMed Central Link
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: rs16942887
PubMed Link: 31551420
PubMed Central Link
Variant Present in the following documents:
  • 41467_2019_Article_12026.pdf
  • Main text
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page


Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans.

Nature Metabolism
KM Garske, DZ Pan, Z Miao, YV Bhagat, C Comenho, CR Robles, JN Benhammou, M Alvarez, A Ko, CJ Ye, JR Pisegna, KL Mohlke, JS Sinsheimer, M Laakso, P Pajukanta
Publication Date: 2019-06

Variant appearance in text: rs16942887
PubMed Link: 31538139
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • nihms-1528316.pdf
View BVdb publication page


Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause.

Scientific Reports
G Ibáñez-Sanz, A Díez-Villanueva, M Riera-Ponsati, T Fernández-Villa, P Fernández Navarro, M Bustamante, J Llorca, P Amiano, N Ascunce, G Fernández-Tardón, I Salcedo Bellido, D Salas, R Capelo Álvarez, M Crous-Bou, L Ortega-Valín, B Pérez-Gómez, G Castaño-Vinyals, C Palazuelos, JM Altzibar, E Ardanaz, A Tardón, JJ Jiménez Moleón, V Olmos Juste, N Aragonés, M Pollán, M Kogevinas, V Moreno
Publication Date: 2019-09-16

Variant appearance in text: rs16942887
PubMed Link: 31527690
PubMed Central Link
Variant Present in the following documents:
  • 41598_2019_49880_MOESM1_ESM.doc
View BVdb publication page


Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs16942887
PubMed Link: 30827501
PubMed Central Link
Variant Present in the following documents:
  • mmc7.xlsx
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: rs16942887
PubMed Link: 30670697
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_8008_MOESM7_ESM.xlsx
  • 41467_2018_8008_MOESM10_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: rs16942887
PubMed Link: 30504769
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_7460_MOESM12_ESM.xlsx
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: rs16942887
PubMed Link: 29986042
PubMed Central Link
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: rs16942887
PubMed Link: 29973585
PubMed Central Link
Variant Present in the following documents:
  • 41467_2018_4668_MOESM9_ESM.xlsx
  • 41467_2018_4668_MOESM18_ESM.xlsx
  • 41467_2018_4668_MOESM13_ESM.xlsx
  • 41467_2018_4668_MOESM10_ESM.xlsx
  • 41467_2018_4668_MOESM15_ESM.xlsx
  • 41467_2018_4668_MOESM14_ESM.xlsx
  • 41467_2018_4668_MOESM11_ESM.xlsx
  • 41467_2018_4668_MOESM12_ESM.xlsx
  • 41467_2018_4668_MOESM16_ESM.xlsx
View BVdb publication page


Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).

Scientific Reports
C Gao, KL Tabb, LM Dimitrov, KD Taylor, N Wang, X Guo, J Long, JI Rotter, RM Watanabe, JE Curran, J Blangero, CD Langefeld, DW Bowden, ND Palmer
Publication Date: 2018-04-04

Variant appearance in text: rs16942887
PubMed Link: 29618726
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs16942887
PubMed Link: 29531354
PubMed Central Link
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: rs16942887
PubMed Link: 29531326
PubMed Central Link
Variant Present in the following documents:
  • 41416_2018_9_MOESM1_ESM.docx
  • 41416_2018_9_MOESM2_ESM.xlsx
View BVdb publication page


Visit-to-visit lipid variability: Clinical significance, effects of lipid-lowering treatment, and (pharmaco) genetics.

Journal Of Clinical Lipidology
RAJ Smit, JW Jukema, I Postmus, I Ford, PE Slagboom, BT Heijmans, S Le Cessie, S Trompet
Publication Date: 2018

Variant appearance in text: rs16942887
PubMed Link: 29422286
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
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: rs16942887
PubMed Link: 29375475
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges.

Proceedings Of The National Academy Of Sciences Of The United States Of America
B Piasecka, D Duffy, A Urrutia, H Quach, E Patin, C Posseme, J Bergstedt, B Charbit, V Rouilly, CR MacPherson, M Hasan, B Albaud, D Gentien, J Fellay, ML Albert, L Quintana-Murci,
Publication Date: 2018-01-16

Variant appearance in text: rs16942887
PubMed Link: 29282317
PubMed Central Link
Variant Present in the following documents:
  • pnas.1714765115.sd23.xlsx
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: rs16942887
PubMed Link: 29084231
PubMed Central Link
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: rs16942887
PubMed Link: 29083407
PubMed Central Link
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
  • NIHMS909133-supplement-1.docx
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: rs16942887
PubMed Link: 28951389
PubMed Central Link
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: rs16942887
PubMed Link: 28821713
PubMed Central Link
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.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: rs16942887
PubMed Link: 28577571
PubMed Central Link
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • Main text
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: rs16942887
PubMed Link: 28480134
PubMed Central Link
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: rs16942887
PubMed Link: 28426890
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • ddw358_supp.docx
View BVdb publication page


Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA).

Human Genetics
Z Wang, A Manichukal, DC Goff, S Mora, JM Ordovas, NM Pajewski, WS Post, JI Rotter, MM Sale, SA Santorico, D Siscovick, MY Tsai, DK Arnett, S Rich, AC Frazier-Wood
Publication Date: 2017-06

Variant appearance in text: rs16942887
PubMed Link: 28352986
PubMed Central Link
Variant Present in the following documents:
  • 439_2017_1782_MOESM1_ESM.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: rs16942887
PubMed Link: 28340513
PubMed Central Link
Variant Present in the following documents:
  • NIHMS79344-supplement-Supplementary_Data.pdf
  • NIHMS79344-supplement-Supplementary_Material.pdf
View BVdb publication page


Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

American Journal Of Human Genetics
M Civelek, Y Wu, C Pan, CK Raulerson, A Ko, A He, C Tilford, NK Saleem, A Stančáková, LJ Scott, C Fuchsberger, HM Stringham, AU Jackson, N Narisu, PS Chines, KS Small, J Kuusisto, BW Parks, P Pajukanta, T Kirchgessner, FS Collins, PS Gargalovic, M Boehnke, M Laakso, KL Mohlke, AJ Lusis
Publication Date: 2017-03-02

Variant appearance in text: rs16942887
PubMed Link: 28257690
PubMed Central Link
Variant Present in the following documents:
  • mmc3.xlsx
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: rs16942887
PubMed Link: 28250428
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 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: rs16942887
PubMed Link: 27863249
PubMed Central Link
Variant Present in the following documents:
  • mmc3.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: rs16942887
PubMed Link: 27784733
PubMed Central Link
Variant Present in the following documents:
  • NIHMS825913-supplement-001457_-_Supplemental_Material.pdf
View BVdb publication page


Genome-wide compendium and functional assessment of in vivo heart enhancers.

Nature Communications
DE Dickel, I Barozzi, Y Zhu, Y Fukuda-Yuzawa, M Osterwalder, BJ Mannion, D May, CH Spurrell, I Plajzer-Frick, CS Pickle, E Lee, TH Garvin, M Kato, JA Akiyama, V Afzal, AY Lee, DU Gorkin, B Ren, EM Rubin, A Visel, LA Pennacchio
Publication Date: 2016-10-05

Variant appearance in text: rs16942887
PubMed Link: 27703156
PubMed Central Link
Variant Present in the following documents:
  • ncomms12923-s2.xlsx
View BVdb publication page


Is High-Density Lipoprotein Cholesterol Causally Related to Kidney Function? Evidence From Genetic Epidemiological Studies.

Arteriosclerosis, Thrombosis, And Vascular Biology
S Coassin, S Friedel, A Köttgen, C Lamina, F Kronenberg
Publication Date: 2016-11

Variant appearance in text: rs16942887
PubMed Link: 27687604
PubMed Central Link
Variant Present in the following documents:
  • atv-36-2252-s002.pdf
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: rs16942887
PubMed Link: 27551321
PubMed Central Link
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: rs16942887
PubMed Link: 27540175
PubMed Central Link
Variant Present in the following documents:
  • NIHMS865440-supplement-Figure_S41.pdf
View BVdb publication page


A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

Plos One
P Volkov, AH Olsson, L Gillberg, SW Jørgensen, C Brøns, KF Eriksson, L Groop, PA Jansson, E Nilsson, T Rönn, A Vaag, C Ling
Publication Date: 2016

Variant appearance in text: rs16942887
PubMed Link: 27322064
PubMed Central Link
Variant Present in the following documents:
  • pone.0157776.s004.xlsx
View BVdb publication page


Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

Genome Medicine
C Blauwendraat, M Francescatto, JR Gibbs, IE Jansen, J Simón-Sánchez, DG Hernandez, AA Dillman, AB Singleton, MR Cookson, P Rizzu, P Heutink
Publication Date: 2016-06-10

Variant appearance in text: rs16942887
PubMed Link: 27287230
PubMed Central Link
Variant Present in the following documents:
  • 13073_2016_320_MOESM8_ESM.xlsx
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: rs16942887
PubMed Link: 27182959
PubMed Central Link
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: rs16942887
PubMed Link: 27171109
PubMed Central Link
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: rs16942887
PubMed Link: 27015805
PubMed Central Link
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: rs16942887
PubMed Link: 26780889
PubMed Central Link
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: rs16942887
PubMed Link: 26690388
PubMed Central Link
Variant Present in the following documents:
  • ncomms10206-s1.pdf
View BVdb publication page


Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians.

Diabetologia
AK Nair, P Piaggi, NA McLean, M Kaur, S Kobes, WC Knowler, C Bogardus, RL Hanson, LJ Baier
Publication Date: 2016-03

Variant appearance in text: rs16942887
PubMed Link: 26670163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS745539-supplement-125_2015_3835_MOESM3_ESM.pdf
  • NIHMS745539-supplement-125_2015_3835_MOESM2_ESM.pdf
  • NIHMS745539-supplement-125_2015_3835_MOESM1_ESM.pdf
View BVdb publication page


The epigenomic landscape of African rainforest hunter-gatherers and farmers.

Nature Communications
M Fagny, E Patin, JL MacIsaac, M Rotival, T Flutre, MJ Jones, KJ Siddle, H Quach, C Harmant, LM McEwen, A Froment, E Heyer, A Gessain, E Betsem, P Mouguiama-Daouda, JM Hombert, GH Perry, LB Barreiro, MS Kobor, L Quintana-Murci
Publication Date: 2015-11-30

Variant appearance in text: rs16942887
PubMed Link: 26616214
PubMed Central Link
Variant Present in the following documents:
  • ncomms10047-s2.xlsx
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: rs16942887
PubMed Link: 26416764
PubMed Central Link
Variant Present in the following documents:
  • ncomms9464-s2.xlsx
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: rs16942887
PubMed Link: 26273092
PubMed Central Link
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: rs16942887
PubMed Link: 26147798
PubMed Central Link
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: rs16942887
PubMed Link: 26130488
PubMed Central Link
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: rs16942887
PubMed Link: 26079503
PubMed Central Link
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: rs16942887
PubMed Link: 26025476
PubMed Central Link
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: rs16942887
PubMed Link: 25961943
PubMed Central Link
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: rs16942887
PubMed Link: 25920552
PubMed Central Link
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: rs16942887
PubMed Link: 25898210
PubMed Central Link
Variant Present in the following documents:
  • pone.0126104.s004.doc
View BVdb publication page


Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Plos Genetics
A Demirkan, P Henneman, A Verhoeven, H Dharuri, N Amin, JB van Klinken, LC Karssen, B de Vries, A Meissner, S Göraler, AM van den Maagdenberg, AM Deelder, PA C 't Hoen, CM van Duijn, KW van Dijk
Publication Date: 2015-01

Variant appearance in text: rs16942887
PubMed Link: 25569235
PubMed Central Link
Variant Present in the following documents:
  • pgen.1004835.s003.pdf
View BVdb publication page


Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes.

Circulation
C Yao, BH Chen, R Joehanes, B Otlu, X Zhang, C Liu, T Huan, O Tastan, LA Cupples, JB Meigs, CS Fox, JE Freedman, P Courchesne, CJ O'Donnell, PJ Munson, S Keles, D Levy
Publication Date: 2015-02-10

Variant appearance in text: rs16942887
PubMed Link: 25533967
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs16942887
PubMed Link: 25352340
PubMed Central Link
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: rs16942887
PubMed Link: 25226301
PubMed Central Link
Variant Present in the following documents:
  • pmed.1001713.s003.xlsx
View BVdb publication page


Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.

Plos One
JC Almlöf, P Lundmark, A Lundmark, B Ge, T Pastinen, , AH Goodall, F Cambien, P Deloukas, WH Ouwehand, AC Syvänen
Publication Date: 2014

Variant appearance in text: rs16942887
PubMed Link: 25025429
PubMed Central Link
Variant Present in the following documents:
  • pone.0102612.s006.docx
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: rs16942887
PubMed Link: 25010687
PubMed Central Link
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: rs16942887
PubMed Link: 24997396
PubMed Central Link
Variant Present in the following documents:
  • NIHMS672087-supplement.doc
  • Main text
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: rs16942887
PubMed Link: 24922540
PubMed Central Link
Variant Present in the following documents:
  • pgen.1004388.s003.xlsx
  • pgen.1004388.s005.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: rs16942887
PubMed Link: 24678845
PubMed Central Link
Variant Present in the following documents:
  • gm542-S1.xlsx
View BVdb publication page


Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
BP Fairfax, P Humburg, S Makino, V Naranbhai, D Wong, E Lau, L Jostins, K Plant, R Andrews, C McGee, JC Knight
Publication Date: 2014-03-07

Variant appearance in text: rs16942887
PubMed Link: 24604202
PubMed Central Link
Variant Present in the following documents:
  • NIHMS58422-supplement-Table_S6.xls
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: rs16942887
PubMed Link: 24520200
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs16942887
PubMed Link: 24097068
PubMed Central Link
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: rs16942887
PubMed Link: 24097064
PubMed Central Link
Variant Present in the following documents:
  • NIHMS524704-supplement-1.pdf
View BVdb publication page


Genetics of lipid traits and relationship to coronary artery disease.

Current Cardiology Reports
TE Keenan, DJ Rader
Publication Date: 2013-09

Variant appearance in text: rs16942887
PubMed Link: 23881580
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Impact of HDL genetic risk scores on coronary artery calcified plaque and mortality in individuals with type 2 diabetes from the Diabetes Heart Study.

Cardiovascular Diabetology
LM Raffield, AJ Cox, FC Hsu, MC Ng, CD Langefeld, JJ Carr, BI Freedman, DW Bowden
Publication Date: 2013-06-25

Variant appearance in text: rs16942887
PubMed Link: 23799899
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: rs16942887
PubMed Link: 23555291
PubMed Central Link
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: rs16942887
PubMed Link: 23505323
PubMed Central Link
Variant Present in the following documents:
  • NIHMS454100-supplement-Supplementary_Table6.xls
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000291041.5 c.-71+768G>A - intron_variant - 1/2
ENST00000570631.1 n.100+768G>A - intron_variant,non_coding_transcript_variant - 1/1
ENST00000575198.1 n.71+768G>A - intron_variant,non_coding_transcript_variant - 1/1
NM_006742.3 c.-71+768G>A - intron_variant - 1/2