Variant ID: 20-43042364-C-T

NM_000457.4(HNF4A):c.416C>T;(p.Thr139Ile)

This variant was identified in 176 publications




Publications:


Pro-inflammatory cytokine polymorphisms in ONECUT2 and HNF4A and primary colorectal carcinoma: a post genome-wide gene-lifestyle interaction study.

American Journal Of Cancer Research
SY Jung, JC Papp, EM Sobel, M Pellegrini, H Yu, ZF Zhang
Publication Date: 2020

Variant appearance in text: rs1800961
PubMed Link: 33042629
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 33008364
Variant Present in the following documents:
  • Main text
View BVdb publication page



sn-spMF: matrix factorization informs tissue-specific genetic regulation of gene expression.

Genome Biology
Y He, SB Chhetri, M Arvanitis, K Srinivasan, F Aguet, KG Ardlie, AN Barbeira, R Bonazzola, HK Im, , CD Brown, A Battle
Publication Date: 2020-09-11

Variant appearance in text: rs1800961
PubMed Link: 32912314
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.

Diabetes
YC Klimentidis, A Arora, M Newell, J Zhou, JM Ordovas, BJ Renquist, AC Wood
Publication Date: 2020-10

Variant appearance in text: rs1800961
PubMed Link: 32493714
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity.

Gigascience
BB Chu, KL Keys, CA German, H Zhou, JJ Zhou, EM Sobel, JS Sinsheimer, K Lange
Publication Date: 2020-06-01

Variant appearance in text: rs1800961
PubMed Link: 32491161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD.

American Journal Of Human Genetics
DI Chasman, F Giulianini, OV Demler, MS Udler
Publication Date: 2020-05-07

Variant appearance in text: rs1800961
PubMed Link: 32302534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of glycemic traits, type 2 diabetes and metformin use on breast and prostate cancer risk: a Mendelian randomization study.

Bmj Open Diabetes Research & Care
SL Au Yeung, CM Schooling
Publication Date: 2019

Variant appearance in text: rs1800961
PubMed Link: 31908803
Variant Present in the following documents:
  • bmjdrc-2019-000872supp001.pdf
View BVdb publication page



Type 2 Diabetes-Associated Genetic Polymorphisms as Potential Disease Predictors.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
BZ Witka, DJ Oktaviani, M Marcellino, MI Barliana, R Abdulah
Publication Date: 2019

Variant appearance in text: rs1800961
PubMed Link: 31908510
Variant Present in the following documents:
  • Main text
  • dmso-12-2689.pdf
View BVdb publication page



Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
A Totomoch-Serra, MG Domínguez-Cruz, ML Muñoz, MG García-Escalante, J Burgueño, Á Díaz-Badillo, N Valadez-González, DP Escalante
Publication Date: 2020-02

Variant appearance in text: rs1800961
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs1800961
PubMed Link: 31596850
Variant Present in the following documents:
  • pgen.1008431.s006.xls
  • pgen.1008431.s007.xls
View BVdb publication page



Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Nature Genetics
A Tin, J Marten, VL Halperin Kuhns, Y Li, M Wuttke, H Kirsten, KB Sieber, C Qiu, M Gorski, Z Yu, A Giri, G Sveinbjornsson, M Li, AY Chu, A Hoppmann, LJ O'Connor, B Prins, T Nutile, D Noce, M Akiyama, M Cocca, S Ghasemi, PJ van der Most, K Horn, Y Xu, C Fuchsberger, S Sedaghat, S Afaq, N Amin, J Ärnlöv, SJL Bakker, N Bansal, D Baptista, S Bergmann, ML Biggs, G Biino, E Boerwinkle, EP Bottinger, TS Boutin, M Brumat, R Burkhardt, E Campana, A Campbell, H Campbell, RJ Carroll, E Catamo, JC Chambers, M Ciullo, MP Concas, J Coresh, T Corre, D Cusi, SC Felicita, MH de Borst, A De Grandi, R de Mutsert, APJ de Vries, G Delgado, A Demirkan, O Devuyst, K Dittrich, KU Eckardt, G Ehret, K Endlich, MK Evans, RT Gansevoort, P Gasparini, V Giedraitis, C Gieger, G Girotto, M Gögele, SD Gordon, DF Gudbjartsson, V Gudnason, , T Haller, P Hamet, TB Harris, C Hayward, AA Hicks, E Hofer, H Holm, W Huang, N Hutri-Kähönen, SJ Hwang, MA Ikram, RM Lewis, E Ingelsson, J Jakobsdottir, I Jonsdottir, H Jonsson, PK Joshi, NS Josyula, B Jung, M Kähönen, Y Kamatani, M Kanai, SM Kerr, W Kiess, ME Kleber, W Koenig, JS Kooner, A Körner, P Kovacs, BK Krämer, F Kronenberg, M Kubo, B Kühnel, M La Bianca, LA Lange, B Lehne, T Lehtimäki, , J Liu, M Loeffler, RJF Loos, LP Lyytikäinen, R Magi, A Mahajan, NG Martin, W März, D Mascalzoni, K Matsuda, C Meisinger, T Meitinger, A Metspalu, Y Milaneschi, , CJ O'Donnell, OD Wilson, JM Gaziano, PP Mishra, KL Mohlke, N Mononen, GW Montgomery, DO Mook-Kanamori, M Müller-Nurasyid, GN Nadkarni, MA Nalls, M Nauck, K Nikus, B Ning, IM Nolte, R Noordam, JR O'Connell, I Olafsson, S Padmanabhan, BWJH Penninx, T Perls, A Peters, M Pirastu, N Pirastu, G Pistis, O Polasek, B Ponte, DJ Porteous, T Poulain, MH Preuss, TJ Rabelink, LM Raffield, OT Raitakari, R Rettig, M Rheinberger, KM Rice, F Rizzi, A Robino, I Rudan, A Krajcoviechova, R Cifkova, R Rueedi, D Ruggiero, KA Ryan, Y Saba, E Salvi, H Schmidt, R Schmidt, CM Shaffer, AV Smith, BH Smith, CN Spracklen, K Strauch, M Stumvoll, P Sulem, SM Tajuddin, A Teren, J Thiery, CHL Thio, U Thorsteinsdottir, D Toniolo, A Tönjes, J Tremblay, AG Uitterlinden, S Vaccargiu, P van der Harst, CM van Duijn, N Verweij, U Völker, P Vollenweider, G Waeber, M Waldenberger, JB Whitfield, SH Wild, JF Wilson, Q Yang, W Zhang, AB Zonderman, M Bochud, JG Wilson, SA Pendergrass, K Ho, A Parsa, PP Pramstaller, BM Psaty, CA Böger, H Snieder, AS Butterworth, Y Okada, TL Edwards, K Stefansson, K Susztak, M Scholz, IM Heid, AM Hung, A Teumer, C Pattaro, OM Woodward, V Vitart, A Köttgen
Publication Date: 2019-10

Variant appearance in text: HNF4A: T139I; rs1800961
PubMed Link: 31578528
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: rs1800961
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 31545794
Variant Present in the following documents:
  • pone.0222362.s001.pdf
View BVdb publication page



Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology.

Nature Communications
Y Tanigawa, J Li, JM Justesen, H Horn, M Aguirre, C DeBoever, C Chang, B Narasimhan, K Lage, T Hastie, CY Park, G Bejerano, E Ingelsson, MA Rivas
Publication Date: 2019-09-06

Variant appearance in text: rs1800961
PubMed Link: 31492854
Variant Present in the following documents:
  • 41467_2019_11953_MOESM6_ESM.xlsx
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs1800961
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis.

Nature Communications
J Argemi, MU Latasa, SR Atkinson, IO Blokhin, V Massey, JP Gue, J Cabezas, JJ Lozano, D Van Booven, A Bell, S Cao, LA Vernetti, JP Arab, M Ventura-Cots, LR Edmunds, C Fondevilla, P Stärkel, L Dubuquoy, A Louvet, G Odena, JL Gomez, T Aragon, J Altamirano, J Caballeria, MJ Jurczak, DL Taylor, C Berasain, C Wahlestedt, SP Monga, MY Morgan, P Sancho-Bru, P Mathurin, S Furuya, C Lackner, I Rusyn, VH Shah, MR Thursz, J Mann, MA Avila, R Bataller
Publication Date: 2019-07-16

Variant appearance in text: rs1800961
PubMed Link: 31311938
Variant Present in the following documents:
  • 41467_2019_11004_MOESM4_ESM.xlsx
View BVdb publication page



Genome-wide Association Study of Change in Fasting Glucose over time in 13,807 non-diabetic European Ancestry Individuals.

Scientific Reports
CT Liu, J Merino, D Rybin, D DiCorpo, KS Benke, JL Bragg-Gresham, M Canouil, T Corre, H Grallert, A Isaacs, Z Kutalik, J Lahti, L Marullo, C Marzi, LJ Rasmussen-Torvik, G Rocheleau, R Rueedi, C Scapoli, N Verweij, N Vogelzangs, SM Willems, L Yengo, SJL Bakker, J Beilby, J Hui, E Kajantie, M Müller-Nurasyid, W Rathmann, B Balkau, S Bergmann, JG Eriksson, JC Florez, P Froguel, T Harris, J Hung, AL James, M Kavousi, I Miljkovic, AW Musk, LJ Palmer, A Peters, R Roussel, P van der Harst, CM van Duijn, P Vollenweider, I Barroso, I Prokopenko, J Dupuis, JB Meigs, N Bouatia-Naji
Publication Date: 2019-07-01

Variant appearance in text: rs1800961
PubMed Link: 31263163
Variant Present in the following documents:
  • 41598_2019_45823_MOESM2_ESM.xlsx
View BVdb publication page



Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes.

Human Heredity
Y Yu, L Xia, S Lee, X Zhou, HM Stringham, M Boehnke, B Mukherjee
Publication Date: 2018

Variant appearance in text: rs1800961
PubMed Link: 31132756
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 30694319
Variant Present in the following documents:
  • jama-321-364-s001.pdf
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: rs1800961
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM10_ESM.xlsx
  • 41467_2018_8008_MOESM13_ESM.xlsx
  • 41467_2018_8008_MOESM7_ESM.xlsx
View BVdb publication page



Identifying genetic markers associated with susceptibility to cardiovascular diseases.

Future Science Oa
H Shukla, JL Mason, A Sabyah
Publication Date: 2019-01

Variant appearance in text: rs1800961
PubMed Link: 30652019
Variant Present in the following documents:
  • Main text
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: rs1800961
PubMed Link: 30504769
Variant Present in the following documents:
  • 41467_2018_7460_MOESM1_ESM.pdf
  • 41467_2018_7460_MOESM11_ESM.xlsx
  • 41467_2018_7460_MOESM12_ESM.xlsx
  • 41467_2018_7460_MOESM4_ESM.xlsx
  • 41467_2018_7460_MOESM5_ESM.xlsx
  • 41467_2018_7460_MOESM6_ESM.xlsx
  • 41467_2018_7460_MOESM7_ESM.xlsx
  • 41467_2018_7460_MOESM8_ESM.xlsx
  • 41467_2018_7460_MOESM9_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Mendelian randomization analysis of C-reactive protein on colorectal cancer risk.

International Journal Of Epidemiology
X Wang, JY Dai, D Albanes, V Arndt, SI Berndt, S Bézieau, H Brenner, DD Buchanan, K Butterbach, B Caan, G Casey, PT Campbell, AT Chan, Z Chen, J Chang-Claude, M Cotterchio, DF Easton, GG Giles, E Giovannucci, WM Grady, M Hoffmeister, JL Hopper, L Hsu, MA Jenkins, AD Joshi, JW Lampe, SC Larsson, F Lejbkowicz, L Li, A Lindblom, L Le Marchand, V Martin, RL Milne, V Moreno, PA Newcomb, K Offitt, S Ogino, PDP Pharoah, M Pinchev, JD Potter, HS Rennert, G Rennert, W Saliba, C Schafmayer, RE Schoen, P Schrotz-King, ML Slattery, M Song, C Stegmaier, SJ Weinstein, A Wolk, MO Woods, AH Wu, SB Gruber, U Peters, E White
Publication Date: 2019-06-01

Variant appearance in text: rs1800961
PubMed Link: 30476131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

American Journal Of Human Genetics
S Ligthart, A Vaez, U Võsa, MG Stathopoulou, PS de Vries, BP Prins, PJ Van der Most, T Tanaka, E Naderi, LM Rose, Y Wu, R Karlsson, M Barbalic, H Lin, R Pool, G Zhu, A Macé, C Sidore, S Trompet, M Mangino, M Sabater-Lleal, JP Kemp, A Abbasi, T Kacprowski, N Verweij, AV Smith, T Huang, C Marzi, MF Feitosa, KK Lohman, ME Kleber, Y Milaneschi, C Mueller, M Huq, E Vlachopoulou, LP Lyytikäinen, C Oldmeadow, J Deelen, M Perola, JH Zhao, B Feenstra, , M Amini, , J Lahti, KE Schraut, M Fornage, B Suktitipat, WM Chen, X Li, T Nutile, G Malerba, J Luan, T Bak, N Schork, F Del Greco M, E Thiering, A Mahajan, RE Marioni, E Mihailov, J Eriksson, AB Ozel, W Zhang, M Nethander, YC Cheng, S Aslibekyan, W Ang, I Gandin, L Yengo, L Portas, C Kooperberg, E Hofer, KB Rajan, C Schurmann, W den Hollander, TS Ahluwalia, J Zhao, HHM Draisma, I Ford, N Timpson, A Teumer, H Huang, S Wahl, Y Liu, J Huang, HW Uh, F Geller, PK Joshi, LR Yanek, E Trabetti, B Lehne, D Vozzi, M Verbanck, G Biino, Y Saba, I Meulenbelt, JR O'Connell, M Laakso, F Giulianini, PKE Magnusson, CM Ballantyne, JJ Hottenga, GW Montgomery, F Rivadineira, R Rueedi, M Steri, KH Herzig, DJ Stott, C Menni, M Frånberg, B St Pourcain, SB Felix, TH Pers, SJL Bakker, P Kraft, A Peters, D Vaidya, G Delgado, JH Smit, V Großmann, J Sinisalo, I Seppälä, SR Williams, EG Holliday, M Moed, C Langenberg, K Räikkönen, J Ding, H Campbell, MM Sale, YI Chen, AL James, D Ruggiero, N Soranzo, CA Hartman, EN Smith, GS Berenson, C Fuchsberger, D Hernandez, CMT Tiesler, V Giedraitis, D Liewald, K Fischer, D Mellström, A Larsson, Y Wang, WR Scott, M Lorentzon, J Beilby, KA Ryan, CE Pennell, D Vuckovic, B Balkau, MP Concas, R Schmidt, CF Mendes de Leon, EP Bottinger, M Kloppenburg, L Paternoster, M Boehnke, AW Musk, G Willemsen, DM Evans, PAF Madden, M Kähönen, Z Kutalik, M Zoledziewska, V Karhunen, SB Kritchevsky, N Sattar, G Lachance, R Clarke, TB Harris, OT Raitakari, JR Attia, D van Heemst, E Kajantie, R Sorice, G Gambaro, RA Scott, AA Hicks, L Ferrucci, M Standl, CM Lindgren, JM Starr, M Karlsson, L Lind, JZ Li, JC Chambers, TA Mori, EJCN de Geus, AC Heath, NG Martin, J Auvinen, BM Buckley, AJM de Craen, M Waldenberger, K Strauch, T Meitinger, RJ Scott, M McEvoy, M Beekman, C Bombieri, PM Ridker, KL Mohlke, NL Pedersen, AC Morrison, DI Boomsma, JB Whitfield, DP Strachan, A Hofman, P Vollenweider, F Cucca, MR Jarvelin, JW Jukema, TD Spector, A Hamsten, T Zeller, AG Uitterlinden, M Nauck, V Gudnason, L Qi, H Grallert, IB Borecki, JI Rotter, W März, PS Wild, ML Lokki, M Boyle, V Salomaa, M Melbye, JG Eriksson, JF Wilson, BWJH Penninx, DM Becker, BB Worrall, G Gibson, RM Krauss, M Ciullo, G Zaza, NJ Wareham, AJ Oldehinkel, LJ Palmer, SS Murray, PP Pramstaller, S Bandinelli, J Heinrich, E Ingelsson, IJ Deary, R Mägi, L Vandenput, P van der Harst, KC Desch, JS Kooner, C Ohlsson, C Hayward, T Lehtimäki, AR Shuldiner, DK Arnett, LJ Beilin, A Robino, P Froguel, M Pirastu, T Jess, W Koenig, RJF Loos, DA Evans, H Schmidt, GD Smith, PE Slagboom, G Eiriksdottir, AP Morris, BM Psaty, RP Tracy, IM Nolte, E Boerwinkle, S Visvikis-Siest, AP Reiner, M Gross, JC Bis, L Franke, OH Franco, EJ Benjamin, DI Chasman, J Dupuis, H Snieder, A Dehghan, BZ Alizadeh
Publication Date: 2018-11-01

Variant appearance in text: rs1800961
PubMed Link: 30388399
Variant Present in the following documents:
  • Main text
  • mmc2.xlsx
View BVdb publication page



Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.

Nature Genetics
A Mahajan, D Taliun, M Thurner, NR Robertson, JM Torres, NW Rayner, AJ Payne, V Steinthorsdottir, RA Scott, N Grarup, JP Cook, EM Schmidt, M Wuttke, C Sarnowski, R Mägi, J Nano, C Gieger, S Trompet, C Lecoeur, MH Preuss, BP Prins, X Guo, LF Bielak, JE Below, DW Bowden, JC Chambers, YJ Kim, MCY Ng, LE Petty, X Sim, W Zhang, AJ Bennett, J Bork-Jensen, CM Brummett, M Canouil, KU Ec Kardt, K Fischer, SLR Kardia, F Kronenberg, K Läll, CT Liu, AE Locke, J Luan, I Ntalla, V Nylander, S Schönherr, C Schurmann, L Yengo, EP Bottinger, I Brandslund, C Christensen, G Dedoussis, JC Florez, I Ford, OH Franco, TM Frayling, V Giedraitis, S Hackinger, AT Hattersley, C Herder, MA Ikram, M Ingelsson, ME Jørgensen, T Jørgensen, J Kriebel, J Kuusisto, S Ligthart, CM Lindgren, A Linneberg, V Lyssenko, V Mamakou, T Meitinger, KL Mohlke, AD Morris, G Nadkarni, JS Pankow, A Peters, N Sattar, A Stančáková, K Strauch, KD Taylor, B Thorand, G Thorleifsson, U Thorsteinsdottir, J Tuomilehto, DR Witte, J Dupuis, PA Peyser, E Zeggini, RJF Loos, P Froguel, E Ingelsson, L Lind, L Groop, M Laakso, FS Collins, JW Jukema, CNA Palmer, H Grallert, A Metspalu, A Dehghan, A Köttgen, GR Abecasis, JB Meigs, JI Rotter, J Marchini, O Pedersen, T Hansen, C Langenberg, NJ Wareham, K Stefansson, AL Gloyn, AP Morris, M Boehnke, MI McCarthy
Publication Date: 2018-11

Variant appearance in text: rs1800961
PubMed Link: 30297969
Variant Present in the following documents:
  • NIHMS80721-supplement-Supplementary_information.pdf
View BVdb publication page



Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.

Plos Medicine
MS Udler, J Kim, M von Grotthuss, S Bonàs-Guarch, JB Cole, J Chiou, , M Boehnke, M Laakso, G Atzmon, B Glaser, JM Mercader, K Gaulton, J Flannick, G Getz, JC Florez
Publication Date: 2018-09

Variant appearance in text: rs1800961
PubMed Link: 30240442
Variant Present in the following documents:
  • Main text
  • pmed.1002654.s006.xlsx
  • pmed.1002654.s008.xlsx
View BVdb publication page



Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.

Hepatology Communications
SE Kleinstein, M Rein, MF Abdelmalek, CD Guy, DB Goldstein, A Mae Diehl, CA Moylan
Publication Date: 2018-09

Variant appearance in text: rs1800961
PubMed Link: 30202817
Variant Present in the following documents:
  • HEP4-2-1021-s001.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: rs1800961
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: rs1800961
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



Identification of nine novel loci related to hematological traits in a Japanese population.

Physiological Genomics
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2018-09-01

Variant appearance in text: rs1800961
PubMed Link: 29958078
Variant Present in the following documents:
  • TableS10.xlsx
  • TableS7.xlsx
View BVdb publication page



Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Human Molecular Genetics
JM Kocarnik, M Richard, M Graff, J Haessler, S Bien, C Carlson, CL Carty, AP Reiner, CL Avery, CM Ballantyne, AZ LaCroix, TL Assimes, M Barbalic, N Pankratz, W Tang, R Tao, D Chen, GA Talavera, ML Daviglus, DA Chirinos-Medina, R Pereira, K Nishimura, P Bužková, LG Best, JL Ambite, I Cheng, DC Crawford, LA Hindorff, M Fornage, G Heiss, KE North, CA Haiman, U Peters, L Le Marchand, C Kooperberg
Publication Date: 2018-08-15

Variant appearance in text: rs1800961
PubMed Link: 29878111
Variant Present in the following documents:
  • Main text
  • ddy211.pdf
View BVdb publication page



Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients.

Frontiers In Pharmacology
E De Mattia, E Cecchin, M Montico, A Labriet, C Guillemette, E Dreussi, R Roncato, A Bignucolo, A Buonadonna, M D'Andrea, L Coppola, S Lonardi, E Lévesque, D Jonker, F Couture, G Toffoli
Publication Date: 2018

Variant appearance in text: rs1800961
PubMed Link: 29706892
Variant Present in the following documents:
  • Main text
  • Table_3.doc
View BVdb publication page



Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Nature Genetics
A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, W Gan, H Kitajima, D Taliun, NW Rayner, X Guo, Y Lu, M Li, RA Jensen, Y Hu, S Huo, KK Lohman, W Zhang, JP Cook, BP Prins, J Flannick, N Grarup, VV Trubetskoy, J Kravic, YJ Kim, DV Rybin, H Yaghootkar, M Müller-Nurasyid, K Meidtner, R Li-Gao, TV Varga, J Marten, J Li, AV Smith, P An, S Ligthart, S Gustafsson, G Malerba, A Demirkan, JF Tajes, V Steinthorsdottir, M Wuttke, C Lecoeur, M Preuss, LF Bielak, M Graff, HM Highland, AE Justice, DJ Liu, E Marouli, GM Peloso, HR Warren, , , , S Afaq, S Afzal, E Ahlqvist, P Almgren, N Amin, LB Bang, AG Bertoni, C Bombieri, J Bork-Jensen, I Brandslund, JA Brody, NP Burtt, M Canouil, YI Chen, YS Cho, C Christensen, SV Eastwood, KU Eckardt, K Fischer, G Gambaro, V Giedraitis, ML Grove, HG de Haan, S Hackinger, Y Hai, S Han, A Tybjærg-Hansen, MF Hivert, B Isomaa, S Jäger, ME Jørgensen, T Jørgensen, A Käräjämäki, BJ Kim, SS Kim, HA Koistinen, P Kovacs, J Kriebel, F Kronenberg, K Läll, LA Lange, JJ Lee, B Lehne, H Li, KH Lin, A Linneberg, CT Liu, J Liu, M Loh, R Mägi, V Mamakou, R McKean-Cowdin, G Nadkarni, M Neville, SF Nielsen, I Ntalla, PA Peyser, W Rathmann, K Rice, SS Rich, L Rode, O Rolandsson, S Schönherr, E Selvin, KS Small, A Stančáková, P Surendran, KD Taylor, TM Teslovich, B Thorand, G Thorleifsson, A Tin, A Tönjes, A Varbo, DR Witte, AR Wood, P Yajnik, J Yao, L Yengo, R Young, P Amouyel, H Boeing, E Boerwinkle, EP Bottinger, R Chowdhury, FS Collins, G Dedoussis, A Dehghan, P Deloukas, MM Ferrario, J Ferrières, JC Florez, P Frossard, V Gudnason, TB Harris, SR Heckbert, JMM Howson, M Ingelsson, S Kathiresan, F Kee, J Kuusisto, C Langenberg, LJ Launer, CM Lindgren, S Männistö, T Meitinger, O Melander, KL Mohlke, M Moitry, AD Morris, AD Murray, R de Mutsert, M Orho-Melander, KR Owen, M Perola, A Peters, MA Province, A Rasheed, PM Ridker, F Rivadineira, FR Rosendaal, AH Rosengren, V Salomaa, WH Sheu, R Sladek, BH Smith, K Strauch, AG Uitterlinden, R Varma, CJ Willer, M Blüher, AS Butterworth, JC Chambers, DI Chasman, J Danesh, C van Duijn, J Dupuis, OH Franco, PW Franks, P Froguel, H Grallert, L Groop, BG Han, T Hansen, AT Hattersley, C Hayward, E Ingelsson, SLR Kardia, F Karpe, JS Kooner, A Köttgen, K Kuulasmaa, M Laakso, X Lin, L Lind, Y Liu, RJF Loos, J Marchini, A Metspalu, D Mook-Kanamori, BG Nordestgaard, CNA Palmer, JS Pankow, O Pedersen, BM Psaty, R Rauramaa, N Sattar, MB Schulze, N Soranzo, TD Spector, K Stefansson, M Stumvoll, U Thorsteinsdottir, T Tuomi, J Tuomilehto, NJ Wareham, JG Wilson, E Zeggini, RA Scott, I Barroso, TM Frayling, MO Goodarzi, JB Meigs, M Boehnke, D Saleheen, AP Morris, JI Rotter, MI McCarthy
Publication Date: 2018-04

Variant appearance in text: HNF4A: Thr139Ile; rs1800961
PubMed Link: 29632382
Variant Present in the following documents:
  • Main text
  • NIHMS938867-supplement-1.pdf
  • NIHMS938867-supplement-2.xlsx
View BVdb publication page



Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

Plos Genetics
CN Spracklen, J Shi, S Vadlamudi, Y Wu, M Zou, CK Raulerson, JP Davis, M Zeynalzadeh, K Jackson, W Yuan, H Wang, W Shou, Y Wang, J Luo, LA Lange, EM Lange, BM Popkin, P Gordon-Larsen, S Du, W Huang, KL Mohlke
Publication Date: 2018-04

Variant appearance in text: rs1800961
PubMed Link: 29621232
Variant Present in the following documents:
  • pgen.1007275.s021.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: rs1800961
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: rs1800961
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



An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine
J Zhao, F Cheng, P Jia, N Cox, JC Denny, Z Zhao
Publication Date: 2018-01-29

Variant appearance in text: HNF4A: T139I; rs1800961
PubMed Link: 29378629
Variant Present in the following documents:
  • 13073_2018_513_MOESM1_ESM.xlsx
  • 13073_2018_513_MOESM2_ESM.xlsx
  • 13073_2018_513_MOESM3_ESM.xlsx
  • 13073_2018_513_MOESM4_ESM.xlsx
  • aaaaaMain text
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: rs1800961
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammatory Biomarkers and Risk of Schizophrenia: A 2-Sample Mendelian Randomization Study.

Jama Psychiatry
FP Hartwig, MC Borges, BL Horta, J Bowden, G Davey Smith
Publication Date: 2017-12-01

Variant appearance in text: rs1800961
PubMed Link: 29094161
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 29084231
Variant Present in the following documents:
  • Main text
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.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: rs1800961
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 28951389
Variant Present in the following documents:
  • DB170398SupplementaryData.pdf
View BVdb publication page



Iterative hard thresholding for model selection in genome-wide association studies.

Genetic Epidemiology
KL Keys, GK Chen, K Lange
Publication Date: 2017-12

Variant appearance in text: rs1800961
PubMed Link: 28875524
Variant Present in the following documents:
  • NIHMS898446-supplement-Supp_TableS1-2.docx
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: rs1800961
PubMed Link: 28821713
Variant Present in the following documents:
  • 41598_2017_7213_MOESM1_ESM.pdf
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 28772107
Variant Present in the following documents:
  • NIHMS896854-supplement.pdf
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.

Diabetes
RA Scott, LJ Scott, R Mägi, L Marullo, KJ Gaulton, M Kaakinen, N Pervjakova, TH Pers, AD Johnson, JD Eicher, AU Jackson, T Ferreira, Y Lee, C Ma, V Steinthorsdottir, G Thorleifsson, L Qi, NR Van Zuydam, A Mahajan, H Chen, P Almgren, BF Voight, H Grallert, M Müller-Nurasyid, JS Ried, NW Rayner, N Robertson, LC Karssen, EM van Leeuwen, SM Willems, C Fuchsberger, P Kwan, TM Teslovich, P Chanda, M Li, Y Lu, C Dina, D Thuillier, L Yengo, L Jiang, T Sparso, HA Kestler, H Chheda, L Eisele, S Gustafsson, M Frånberg, RJ Strawbridge, R Benediktsson, AB Hreidarsson, A Kong, G Sigurðsson, ND Kerrison, J Luan, L Liang, T Meitinger, M Roden, B Thorand, T Esko, E Mihailov, C Fox, CT Liu, D Rybin, B Isomaa, V Lyssenko, T Tuomi, DJ Couper, JS Pankow, N Grarup, CT Have, ME Jørgensen, T Jørgensen, A Linneberg, MC Cornelis, RM van Dam, DJ Hunter, P Kraft, Q Sun, S Edkins, KR Owen, JRB Perry, AR Wood, E Zeggini, J Tajes-Fernandes, GR Abecasis, LL Bonnycastle, PS Chines, HM Stringham, HA Koistinen, L Kinnunen, B Sennblad, TW Mühleisen, MM Nöthen, S Pechlivanis, D Baldassarre, K Gertow, SE Humphries, E Tremoli, N Klopp, J Meyer, G Steinbach, R Wennauer, JG Eriksson, S Mӓnnistö, L Peltonen, E Tikkanen, G Charpentier, E Eury, S Lobbens, B Gigante, K Leander, O McLeod, EP Bottinger, O Gottesman, D Ruderfer, M Blüher, P Kovacs, A Tonjes, NM Maruthur, C Scapoli, R Erbel, KH Jöckel, S Moebus, U de Faire, A Hamsten, M Stumvoll, P Deloukas, PJ Donnelly, TM Frayling, AT Hattersley, S Ripatti, V Salomaa, NL Pedersen, BO Boehm, RN Bergman, FS Collins, KL Mohlke, J Tuomilehto, T Hansen, O Pedersen, I Barroso, L Lannfelt, E Ingelsson, L Lind, CM Lindgren, S Cauchi, P Froguel, RJF Loos, B Balkau, H Boeing, PW Franks, A Barricarte Gurrea, D Palli, YT van der Schouw, D Altshuler, LC Groop, C Langenberg, NJ Wareham, E Sijbrands, CM van Duijn, JC Florez, JB Meigs, E Boerwinkle, C Gieger, K Strauch, A Metspalu, AD Morris, CNA Palmer, FB Hu, U Thorsteinsdottir, K Stefansson, J Dupuis, AP Morris, M Boehnke, MI McCarthy, I Prokopenko,
Publication Date: 2017-11

Variant appearance in text: HNF4A: Thr139Ile; rs1800961
PubMed Link: 28566273
Variant Present in the following documents:
  • Main text
  • DB161253SupplementaryData2.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs1800961
PubMed Link: 28480134
Variant Present in the following documents:
  • peerj-05-3187-s002.xlsx
View BVdb publication page



Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.

The Journal Of Clinical Endocrinology And Metabolism
LK Billings, KA Jablonski, AS Warner, YC Cheng, JB McAteer, L Tipton, AR Shuldiner, DA Ehrmann, AK Manning, D Dabelea, PW Franks, SE Kahn, TI Pollin, WC Knowler, D Altshuler, JC Florez,
Publication Date: 2017-08-01

Variant appearance in text: HNF4A: Thr139Ile; rs1800961
PubMed Link: 28453780
Variant Present in the following documents:
  • Main text
  • jc.2016-3429.st1.xlsx
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
L Bomba, K Walter, N Soranzo
Publication Date: 2017-04-27

Variant appearance in text: rs1800961
PubMed Link: 28449691
Variant Present in the following documents:
  • 13059_2017_1212_MOESM1_ESM.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: rs1800961
PubMed Link: 28426890
Variant Present in the following documents:
  • Main text
  • ddw358_supp.docx
View BVdb publication page



Genetic variants in KCNJ11, TCF7L2 and HNF4A are associated with type 2 diabetes, BMI and dyslipidemia in families of Northeastern Mexico: A pilot study.

Experimental And Therapeutic Medicine
HL Gallardo-Blanco, JZ Villarreal-Perez, RM Cerda-Flores, A Figueroa, CN Sanchez-Dominguez, JM Gutierrez-Valverde, IC Torres-Muñoz, FJ Lavalle-Gonzalez, EC Gallegos-Cabriales, LE Martinez-Garza
Publication Date: 2017-02

Variant appearance in text: rs1800961
PubMed Link: 28352326
Variant Present in the following documents:
  • Main text
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: rs1800961
PubMed Link: 28340513
Variant Present in the following documents:
  • NIHMS79344-supplement-Supplementary_Data.pdf
  • NIHMS79344-supplement-Supplementary_Material.pdf
View BVdb publication page



Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

Plos One
PS de Vries, M Sabater-Lleal, DI Chasman, S Trompet, TS Ahluwalia, A Teumer, ME Kleber, MH Chen, JJ Wang, JR Attia, RE Marioni, M Steri, LC Weng, R Pool, V Grossmann, JA Brody, C Venturini, T Tanaka, LM Rose, C Oldmeadow, J Mazur, S Basu, M Frånberg, Q Yang, S Ligthart, JJ Hottenga, A Rumley, A Mulas, AJ de Craen, A Grotevendt, KD Taylor, GE Delgado, A Kifley, LM Lopez, TL Berentzen, M Mangino, S Bandinelli, AC Morrison, A Hamsten, G Tofler, MP de Maat, HH Draisma, GD Lowe, M Zoledziewska, N Sattar, KJ Lackner, U Völker, B McKnight, J Huang, EG Holliday, MA McEvoy, JM Starr, PG Hysi, DG Hernandez, W Guan, F Rivadeneira, WL McArdle, PE Slagboom, T Zeller, BM Psaty, AG Uitterlinden, EJ de Geus, DJ Stott, H Binder, A Hofman, OH Franco, JI Rotter, L Ferrucci, TD Spector, IJ Deary, W März, A Greinacher, PS Wild, F Cucca, DI Boomsma, H Watkins, W Tang, PM Ridker, JW Jukema, RJ Scott, P Mitchell, T Hansen, CJ O'Donnell, NL Smith, DP Strachan, A Dehghan
Publication Date: 2017

Variant appearance in text: rs1800961
PubMed Link: 28107422
Variant Present in the following documents:
  • Main text
  • pone.0167742.s007.xlsx
  • pone.0167742.s008.xlsx
  • pone.0167742.s010.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000316099.4 c.416C>T p.Thr139Ile missense_variant 4/10 -
ENST00000316673.4 c.350C>T p.Thr117Ile missense_variant 4/10 -
ENST00000372920.1 c.*183C>T - 3_prime_UTR_variant,NMD_transcript_variant 5/11 -
ENST00000415691.2 c.416C>T p.Thr139Ile missense_variant 4/10 -
ENST00000443598.2 c.416C>T p.Thr139Ile missense_variant 4/8 -
ENST00000457232.1 c.350C>T p.Thr117Ile missense_variant 4/10 -
ENST00000609795.1 c.350C>T p.Thr117Ile missense_variant 4/8 -
NM_000457.4 c.416C>T p.Thr139Ile missense_variant 4/10 -
NM_001030003.3 c.350C>T p.Thr117Ile missense_variant 4/10 -
NM_001030004.3 c.350C>T p.Thr117Ile missense_variant 4/8 -
NM_001258355.2 c.395C>T p.Thr132Ile missense_variant 5/11 -
NM_001287182.2 c.341C>T p.Thr114Ile missense_variant 5/11 -
NM_001287183.1 c.341C>T p.Thr114Ile missense_variant 5/11 -
NM_001287184.2 c.341C>T p.Thr114Ile missense_variant 5/9 -
NM_175914.4 c.350C>T p.Thr117Ile missense_variant 4/10 -
NM_178849.3 c.416C>T p.Thr139Ile missense_variant 4/10 -
NM_178850.3 c.416C>T p.Thr139Ile missense_variant 4/8 -