Variant ID: 5-74648603-A-T

NM_000859.2(HMGCR):c.1368+1176A>T

This variant was identified in 90 publications




Publications:


GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.

Scientific Reports
H Kim, CJ Lee, H Pak, DI Kim, MY Rhee, BK Lee, Y Ahn, BR Cho, JT Woo, SH Hur, JO Jeong, JH Lee, SH Lee
Publication Date: 2020-11-09

Variant appearance in text: rs12654264
PubMed Link: 33168860
Variant Present in the following documents:
  • Main text
View BVdb publication page



Model of genetic and environmental factors associated with type 2 diabetes mellitus in a Chinese Han population.

Bmc Public Health
Z Li, CY Ye, TY Zhao, L Yang
Publication Date: 2020-06-29

Variant appearance in text: rs12654264
PubMed Link: 32600448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between ethanol consumption and TBL2 rs17145738 on LDL-C concentration in Japanese adults: a four season 3-day weighed diet record study.

Bmc Nutrition
S Akimoto, C Goto, K Kuriki
Publication Date: 2019

Variant appearance in text: rs12654264
PubMed Link: 32153974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.

Genes & Genomics
D Li, H Kang, S Lee, S Won
Publication Date: 2020-04

Variant appearance in text: rs12654264
PubMed Link: 31902109
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
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: rs12654264
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_ESM.xlsx
  • 41467_2019_11954_MOESM14_ESM.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
  • 41467_2019_12026_MOESM2_ESM.pdf
View BVdb publication page



The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2nd Trimester Lipid Levels and Preterm Birth.

Frontiers In Genetics
U Kovac, EA Jasper, CJ Smith, RJ Baer, B Bedell, BM Donovan, N Weathers, U Prosenc Zmrzljak, LL Jelliffe-Pawlowski, D Rozman, KK Ryckman
Publication Date: 2019

Variant appearance in text: rs12654264
PubMed Link: 31249592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs12654264
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
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: rs12654264
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc6.xlsx
  • 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: rs12654264
PubMed Link: 30670697
Variant Present in the following documents:
  • 41467_2018_8008_MOESM11_ESM.xlsx
  • 41467_2018_8008_MOESM8_ESM.xlsx
View BVdb publication page



Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

American Journal Of Human Genetics
AT Kraja, C Liu, JL Fetterman, M Graff, CT Have, C Gu, LR Yanek, MF Feitosa, DE Arking, DI Chasman, K Young, S Ligthart, WD Hill, S Weiss, J Luan, F Giulianini, R Li-Gao, FP Hartwig, SJ Lin, L Wang, TG Richardson, J Yao, EP Fernandez, M Ghanbari, MK Wojczynski, WJ Lee, M Argos, SM Armasu, RA Barve, KA Ryan, P An, TJ Baranski, SJ Bielinski, DW Bowden, U Broeckel, K Christensen, AY Chu, J Corley, SR Cox, AG Uitterlinden, F Rivadeneira, CD Cropp, EW Daw, D van Heemst, L de Las Fuentes, H Gao, I Tzoulaki, TS Ahluwalia, R de Mutsert, LS Emery, AM Erzurumluoglu, JA Perry, M Fu, NG Forouhi, Z Gu, Y Hai, SE Harris, G Hemani, SC Hunt, MR Irvin, AE Jonsson, AE Justice, ND Kerrison, NB Larson, KH Lin, LD Love-Gregory, RA Mathias, JH Lee, M Nauck, R Noordam, KK Ong, J Pankow, A Patki, A Pattie, A Petersmann, Q Qi, R Ribel-Madsen, R Rohde, K Sandow, TM Schnurr, T Sofer, JM Starr, AM Taylor, A Teumer, NJ Timpson, HG de Haan, Y Wang, PE Weeke, C Williams, H Wu, W Yang, D Zeng, DR Witte, BS Weir, NJ Wareham, H Vestergaard, ST Turner, C Torp-Pedersen, E Stergiakouli, WH Sheu, FR Rosendaal, MA Ikram, OH Franco, PM Ridker, TT Perls, O Pedersen, EA Nohr, AB Newman, A Linneberg, C Langenberg, TO Kilpeläinen, SLR Kardia, ME Jørgensen, T Jørgensen, TIA Sørensen, G Homuth, T Hansen, MO Goodarzi, IJ Deary, C Christensen, YI Chen, A Chakravarti, I Brandslund, K Bonnelykke, KD Taylor, JG Wilson, S Rodriguez, G Davies, BL Horta, B Thyagarajan, DC Rao, N Grarup, VG Davila-Roman, G Hudson, X Guo, DK Arnett, C Hayward, D Vaidya, DO Mook-Kanamori, HK Tiwari, D Levy, RJF Loos, A Dehghan, P Elliott, AN Malik, RA Scott, DM Becker, M de Andrade, MA Province, JB Meigs, JI Rotter, KE North
Publication Date: 2019-01-03

Variant appearance in text: rs12654264
PubMed Link: 30595373
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 29673576
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx
View BVdb publication page



A Genome-Wide Association Study Identifies a Candidate Gene Associated With Atazanavir Exposure Measured in Hair.

Clinical Pharmacology And Therapeutics
B Tamraz, Y Huang, AL French, S Kassaye, K Anastos, MJ Nowicki, S Gange, DR Gustafson, P Bacchetti, RM Greenblatt, PG Hysi, BE Aouizerat
Publication Date: 2018-11

Variant appearance in text: rs12654264
PubMed Link: 29315502
Variant Present in the following documents:
  • NIHMS933666-supplement-Supp_TableS3.docx
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



The effect of genetic variants on the relationship between statins and breast cancer in postmenopausal women in the Women's Health Initiative observational study.

Breast Cancer Research And Treatment
CH Bock, AM Jay, G Dyson, JL Beebe-Dimmer, ML Cote, L Hou, BV Howard, P Desai, K Purrington, R Prentice, MS Simon
Publication Date: 2018-02

Variant appearance in text: rs12654264
PubMed Link: 29063981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Potentiating the effects of radiotherapy in rectal cancer: the role of aspirin, statins and metformin as adjuncts to therapy.

British Journal Of Cancer
KJ Gash, AC Chambers, DE Cotton, AC Williams, MG Thomas
Publication Date: 2017-07-11

Variant appearance in text: rs12654264
PubMed Link: 28641310
Variant Present in the following documents:
  • Main text
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: rs12654264
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
Publication Date: 2017-04-24

Variant appearance in text: rs12654264
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke.

Stroke
I Fernández-Cadenas, M Mendióroz, D Giralt, C Nafria, E Garcia, C Carrera, C Gallego-Fabrega, S Domingues-Montanari, P Delgado, M Ribó, M Castellanos, S Martínez, M Freijo, J Jiménez-Conde, M Rubiera, J Alvarez-Sabín, CA Molina, MA Font, M Grau Olivares, E Palomeras, N Perez de la Ossa, M Martinez-Zabaleta, J Masjuan, F Moniche, D Canovas, C Piñana, F Purroy, D Cocho, I Navas, C Tejero, N Aymerich, N Cullell, E Muiño, J Serena, F Rubio, A Davalos, J Roquer, JF Arenillas, J Martí-Fábregas, K Keene, WM Chen, B Worrall, M Sale, A Arboix, J Krupinski, J Montaner,
Publication Date: 2017-05

Variant appearance in text: rs12654264
PubMed Link: 28411264
Variant Present in the following documents:
  • NIHMS861713-supplement-Supplemental_Material.pdf
View BVdb publication page



Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-05-16

Variant appearance in text: rs12654264
PubMed Link: 28380445
Variant Present in the following documents:
  • oncotarget-08-33527-s002.docx
View BVdb publication page



Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

Journal Of Cellular And Molecular Medicine
Y Zhu, D Zhang, D Zhou, Z Li, Z Li, L Fang, M Yang, Z Shan, H Li, J Chen, X Zhou, W Ye, S Yu, H Li, L Cai, C Liu, J Zhang, L Wang, Y Lai, L Ruan, Z Sun, S Zhang, H Wang, Y Liu, Y Xu, J Ling, C Xu, Y Zhang, D Lv, Z Yuan, J Zhang, Y Zhang, Y Shi, M Lai
Publication Date: 2017-06

Variant appearance in text: rs12654264
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
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: rs12654264
PubMed Link: 28352986
Variant Present in the following documents:
  • 439_2017_1782_MOESM1_ESM.docx
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 28270201
Variant Present in the following documents:
  • 13073_2017_414_MOESM11_ESM.xlsx
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: rs12654264
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 27668658
Variant Present in the following documents:
  • NIHMS71079-supplement-Supplementary_Data.pdf
View BVdb publication page



Phase I biomarker modulation study of atorvastatin in women at increased risk for breast cancer.

Breast Cancer Research And Treatment
BK Arun, Y Gong, D Liu, JK Litton, AM Gutierrez-Barrera, J Jack Lee, L Vornik, NK Ibrahim, T Cornelison, GN Hortobagyi, BM Heckman-Stoddard, KB Koenig, RR Alvarez, JL Murray, V Valero, SM Lippman, P Brown, N Sneige
Publication Date: 2016-07

Variant appearance in text: rs12654264
PubMed Link: 27287781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk.

Human Genetics
V Tragante, FW Asselbergs, DI Swerdlow, TM Palmer, JH Moore, PIW de Bakker, BJ Keating, MV Holmes
Publication Date: 2016-05

Variant appearance in text: rs12654264
PubMed Link: 26946290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
AK Teo, MK Gupta, A Doria, RN Kulkarni
Publication Date: 2015-09

Variant appearance in text: rs12654264
PubMed Link: 26413465
Variant Present in the following documents:
  • Main text
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: rs12654264
PubMed Link: 26130488
Variant Present in the following documents:
  • ejhg2015150x4.xls
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs12654264
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings
AL Kaufman, J Spitz, M Jacobs, M Sorrentino, S Yuen, K Danahey, D Saner, TE Klein, RB Altman, MJ Ratain, PH O'Donnell
Publication Date: 2015-06

Variant appearance in text: rs12654264
PubMed Link: 26046407
Variant Present in the following documents:
  • NIHMS676556-supplement-4.pdf
View BVdb publication page



A genome-wide pleiotropy scan for prostate cancer risk.

European Urology
OA Panagiotou, RC Travis, D Campa, SI Berndt, S Lindstrom, P Kraft, FR Schumacher, A Siddiq, SI Papatheodorou, JL Stanford, D Albanes, J Virtamo, SJ Weinstein, WR Diver, SM Gapstur, VL Stevens, H Boeing, HB Bueno-de-Mesquita, A Barricarte Gurrea, R Kaaks, KT Khaw, V Krogh, K Overvad, E Riboli, D Trichopoulos, E Giovannucci, M Stampfer, C Haiman, B Henderson, L Le Marchand, JM Gaziano, DJ Hunter, S Koutros, M Yeager, RN Hoover, , SJ Chanock, S Wacholder, TJ Key, KK Tsilidis
Publication Date: 2015-04

Variant appearance in text: rs12654264
PubMed Link: 25277271
Variant Present in the following documents:
  • NIHMS628904-supplement-Suppl__1.doc
View BVdb publication page



HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.

Lancet (London, England)
DI Swerdlow, D Preiss, KB Kuchenbaecker, MV Holmes, JE Engmann, T Shah, R Sofat, S Stender, PC Johnson, RA Scott, M Leusink, N Verweij, SJ Sharp, Y Guo, C Giambartolomei, C Chung, A Peasey, A Amuzu, K Li, J Palmen, P Howard, JA Cooper, F Drenos, YR Li, G Lowe, J Gallacher, MC Stewart, I Tzoulaki, SG Buxbaum, DL van der A, NG Forouhi, NC Onland-Moret, YT van der Schouw, RB Schnabel, JA Hubacek, R Kubinova, M Baceviciene, A Tamosiunas, A Pajak, R Topor-Madry, U Stepaniak, S Malyutina, D Baldassarre, B Sennblad, E Tremoli, U de Faire, F Veglia, I Ford, JW Jukema, RG Westendorp, GJ de Borst, PA de Jong, A Algra, W Spiering, AH Maitland-van der Zee, OH Klungel, A de Boer, PA Doevendans, CB Eaton, JG Robinson, D Duggan, , , , J Kjekshus, JR Downs, AM Gotto, AC Keech, R Marchioli, G Tognoni, PS Sever, NR Poulter, DD Waters, TR Pedersen, P Amarenco, H Nakamura, JJ McMurray, JD Lewsey, DI Chasman, PM Ridker, AP Maggioni, L Tavazzi, KK Ray, SR Seshasai, JE Manson, JF Price, PH Whincup, RW Morris, DA Lawlor, GD Smith, Y Ben-Shlomo, PJ Schreiner, M Fornage, DS Siscovick, M Cushman, M Kumari, NJ Wareham, WM Verschuren, S Redline, SR Patel, JC Whittaker, A Hamsten, JA Delaney, C Dale, TR Gaunt, A Wong, D Kuh, R Hardy, S Kathiresan, BA Castillo, P van der Harst, EJ Brunner, A Tybjaerg-Hansen, MG Marmot, RM Krauss, M Tsai, J Coresh, RC Hoogeveen, BM Psaty, LA Lange, H Hakonarson, F Dudbridge, SE Humphries, PJ Talmud, M Kivimäki, NJ Timpson, C Langenberg, FW Asselbergs, M Voevoda, M Bobak, H Pikhart, JG Wilson, AP Reiner, BJ Keating, AD Hingorani, N Sattar
Publication Date: 2015-01-24

Variant appearance in text: rs12654264
PubMed Link: 25262344
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
JY Kim, HS Cheong, TJ Park, HJ Shin, DW Seo, HS Na, MW Chung, HD Shin
Publication Date: 2014-07

Variant appearance in text: rs12654264
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
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Association of genetic variants with rapid fibrosis: progression after liver transplantation for hepatitis C.

Transplantation
JE Layden, BO Tayo, SJ Cotler, NM Clark, K Baraoidan, SL Friedman, RS Cooper
Publication Date: 2014-05-27

Variant appearance in text: rs12654264
PubMed Link: 24770613
Variant Present in the following documents:
  • Main text
  • NIHMS710967-supplement-Supplemental_file.pdf
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Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.

Circulation. Cardiovascular Genetics
JM Kocarnik, SA Pendergrass, CL Carty, JS Pankow, FR Schumacher, I Cheng, P Durda, JL Ambite, E Deelman, NR Cook, S Liu, J Wactawski-Wende, C Hutter, K Brown-Gentry, S Wilson, LG Best, N Pankratz, CP Hong, SA Cole, VS Voruganti, P Bůžkova, NW Jorgensen, NS Jenny, LR Wilkens, CA Haiman, LN Kolonel, A Lacroix, K North, R Jackson, L Le Marchand, LA Hindorff, DC Crawford, M Gross, U Peters
Publication Date: 2014-04

Variant appearance in text: rs12654264
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
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Evaluation of the effect of genetic variation on the relationship between statins, cardiovascular disease and cancer.

International Journal Of Molecular Epidemiology And Genetics
P Desai, A Jay, C Bock, G Dyson, T Okwuosa, MS Simon
Publication Date: 2013-11-28

Variant appearance in text: rs12654264
PubMed Link: 24319534
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
View BVdb publication page



ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.

Bmc Medical Genomics
M Bysani, O Wallerman, S Bornelöv, K Zatloukal, J Komorowski, C Wadelius
Publication Date: 2013-11-08

Variant appearance in text: rs12654264
PubMed Link: 24206787
Variant Present in the following documents:
  • 1755-8794-6-50-S2.docx
View BVdb publication page



A clinical trial of lovastatin for modification of biomarkers associated with breast cancer risk.

Breast Cancer Research And Treatment
S Vinayak, EJ Schwartz, K Jensen, J Lipson, E Alli, L McPherson, AM Fernandez, VB Sharma, A Staton, MA Mills, EA Schackmann, ML Telli, A Kardashian, JM Ford, AW Kurian
Publication Date: 2013-11

Variant appearance in text: rs12654264
PubMed Link: 24166281
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility for ischemic infarction and arteriolosclerosis based on neuropathologic evaluations.

Cerebrovascular Diseases (Basel, Switzerland)
SY Chou, JM Shulman, BT Keenan, EA Secor, AS Buchman, J Schneider, DA Bennett, PL De Jager
Publication Date: 2013

Variant appearance in text: rs12654264
PubMed Link: 24135527
Variant Present in the following documents:
  • NIHMS527173-supplement-01.pdf
View BVdb publication page



No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human Genetics
L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford
Publication Date: 2013-12

Variant appearance in text: rs12654264
PubMed Link: 24100633
Variant Present in the following documents:
  • Main text
  • NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx
View BVdb publication page



Progress and future aspects in genetics of human hypertension.

Current Hypertension Reports
Q Zhao, TN Kelly, C Li, J He
Publication Date: 2013-12

Variant appearance in text: rs12654264
PubMed Link: 24072558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study.

Plos Biology
CS Carlson, TC Matise, KE North, CA Haiman, MD Fesinmeyer, S Buyske, FR Schumacher, U Peters, N Franceschini, MD Ritchie, DJ Duggan, KL Spencer, L Dumitrescu, CB Eaton, F Thomas, A Young, C Carty, G Heiss, L Le Marchand, DC Crawford, LA Hindorff, CL Kooperberg,
Publication Date: 2013-09

Variant appearance in text: rs12654264
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
View BVdb publication page



Properties of local interactions and their potential value in complementing genome-wide association studies.

Plos One
W Wei, A Gyenesei, CA Semple, CS Haley
Publication Date: 2013

Variant appearance in text: rs12654264
PubMed Link: 23940718
Variant Present in the following documents:
  • pone.0071203.s003.xlsx
View BVdb publication page



Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics
KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,
Publication Date: 2013-05-01

Variant appearance in text: rs12654264
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
  • aaaaaMain text
View BVdb publication page



Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

Plos One
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
Publication Date: 2013

Variant appearance in text: rs12654264
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
View BVdb publication page



Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.

Plos One
JL Bolton, MC Stewart, JF Wilson, N Anderson, JF Price
Publication Date: 2013

Variant appearance in text: rs12654264
PubMed Link: 23468967
Variant Present in the following documents:
  • pone.0057310.s005.pdf
View BVdb publication page



Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics
SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie
Publication Date: 2013

Variant appearance in text: rs12654264
PubMed Link: 23382687
Variant Present in the following documents:
  • pgen.1003087.s001.xlsx
View BVdb publication page



Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.

Plos Genetics
JM Mercader, M Puiggros, AV Segrè, E Planet, E Sorianello, D Sebastian, S Rodriguez-Cuenca, V Ribas, S Bonàs-Guarch, S Draghici, C Yang, S Mora, A Vidal-Puig, J Dupuis, , JC Florez, , A Zorzano, D Torrents
Publication Date: 2012

Variant appearance in text: rs12654264
PubMed Link: 23236286
Variant Present in the following documents:
  • pgen.1003046.s009.doc
View BVdb publication page



Effect of genetic predisposition on blood lipid traits using cumulative risk assessment in the korean population.

Genomics & Informatics
MJ Go, JY Hwang, DJ Kim, HJ Lee, HB Jang, KH Park, J Song, JY Lee
Publication Date: 2012-06

Variant appearance in text: rs12654264
PubMed Link: 23105936
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs12654264
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc7.xls
View BVdb publication page



Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

Plos One
F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato
Publication Date: 2012

Variant appearance in text: rs12654264
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.xls
View BVdb publication page



Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
PC Mann, ME Cooper, KK Ryckman, B Comas, J Gili, S Crumley, EN Bream, HM Byers, T Piester, A Schaefer, PJ Christine, A Lawrence, KL Schaa, KJ Kelsey, SK Berends, AM Momany, E Gadow, V Cosentino, EE Castilla, J López Camelo, C Saleme, LJ Day, SK England, ML Marazita, JM Dagle, JC Murray
Publication Date: 2013-05

Variant appearance in text: rs12654264
PubMed Link: 23018797
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics.

Biological Research For Nursing
CC Imes, MA Austin
Publication Date: 2013-07

Variant appearance in text: rs12654264
PubMed Link: 22531366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease
DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson
Publication Date: 2012-07

Variant appearance in text: rs12654264
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics
CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg
Publication Date: 2012-04-01

Variant appearance in text: rs12654264
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
View BVdb publication page



A short-term biomarker modulation study of simvastatin in women at increased risk of a new breast cancer.

Breast Cancer Research And Treatment
MJ Higgins, TM Prowell, AL Blackford, C Byrne, NF Khouri, SA Slater, SC Jeter, DK Armstrong, NE Davidson, LA Emens, JH Fetting, PP Powers, AC Wolff, H Green, JN Thibert, JM Rae, E Folkerd, M Dowsett, RS Blumenthal, JE Garber, V Stearns
Publication Date: 2012-02

Variant appearance in text: rs12654264
PubMed Link: 22076478
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide scan for common variants affecting the rate of age-related cognitive decline.

Neurobiology Of Aging
PL De Jager, JM Shulman, LB Chibnik, BT Keenan, T Raj, RS Wilson, L Yu, SE Leurgans, D Tran, C Aubin, CD Anderson, A Biffi, JJ Corneveaux, MJ Huentelman, , J Rosand, MJ Daly, AJ Myers, EM Reiman, DA Bennett, DA Evans
Publication Date: 2012-05

Variant appearance in text: rs12654264
PubMed Link: 22054870
Variant Present in the following documents:
  • NIHMS328602-supplement-01.doc
View BVdb publication page



Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: rs12654264
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for age as a modifier of genetic associations for lipid levels.

Annals Of Human Genetics
L Dumitrescu, K Brown-Gentry, R Goodloe, K Glenn, W Yang, N Kornegay, CH Pui, MV Relling, DC Crawford
Publication Date: 2011-09

Variant appearance in text: rs12654264
PubMed Link: 21777205
Variant Present in the following documents:
  • NIHMS304382-supplement-Supp_Table_S1-S4.doc
View BVdb publication page



Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.

Atherosclerosis
BJ Peters, H Pett, OH Klungel, BH Stricker, BM Psaty, NL Glazer, KL Wiggins, JC Bis, A de Boer, AH Maitland-van der Zee
Publication Date: 2011-08

Variant appearance in text: rs12654264
PubMed Link: 21741043
Variant Present in the following documents:
  • NIHMS310676-supplement-01.doc
View BVdb publication page



Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
Publication Date: 2011-06

Variant appearance in text: rs12654264
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
  • pgen.1002138.s016.docx
View BVdb publication page



Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics
G Lettre, CD Palmer, T Young, KG Ejebe, H Allayee, EJ Benjamin, F Bennett, DW Bowden, A Chakravarti, A Dreisbach, DN Farlow, AR Folsom, M Fornage, T Forrester, E Fox, CA Haiman, J Hartiala, TB Harris, SL Hazen, SR Heckbert, BE Henderson, JN Hirschhorn, BJ Keating, SB Kritchevsky, E Larkin, M Li, ME Rudock, CA McKenzie, JB Meigs, YA Meng, TH Mosley, AB Newman, CH Newton-Cheh, DN Paltoo, GJ Papanicolaou, N Patterson, WS Post, BM Psaty, AN Qasim, L Qu, DJ Rader, S Redline, MP Reilly, AP Reiner, SS Rich, JI Rotter, Y Liu, P Shrader, DS Siscovick, WH Tang, HA Taylor, RP Tracy, RS Vasan, KM Waters, R Wilks, JG Wilson, RR Fabsitz, SB Gabriel, S Kathiresan, E Boerwinkle
Publication Date: 2011-02-10

Variant appearance in text: rs12654264
PubMed Link: 21347282
Variant Present in the following documents:
  • pgen.1001300.s016.doc
  • pgen.1001300.s017.doc
View BVdb publication page



Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.

Plos Genetics
EJ Rossin, K Lage, S Raychaudhuri, RJ Xavier, D Tatar, Y Benita, , C Cotsapas, MJ Daly
Publication Date: 2011-01-13

Variant appearance in text: rs12654264
PubMed Link: 21249183
Variant Present in the following documents:
  • pgen.1001273.s011.xls
  • pgen.1001273.s012.xls
View BVdb publication page



Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population.

Journal Of Lipid Research
Y Liu, D Zhou, Z Zhang, Y Song, D Zhang, T Zhao, Z Chen, Y Sun, D Zhang, Y Yang, Q Xing, X Zhao, H Xu, L He
Publication Date: 2011-02

Variant appearance in text: rs12654264
PubMed Link: 21149302
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants and their interactions in the prediction of increased pre-clinical carotid atherosclerosis: the cardiovascular risk in young Finns study.

Plos Genetics
S Okser, T Lehtimäki, LL Elo, N Mononen, N Peltonen, M Kähönen, M Juonala, YM Fan, JA Hernesniemi, T Laitinen, LP Lyytikäinen, R Rontu, C Eklund, N Hutri-Kähönen, L Taittonen, M Hurme, JS Viikari, OT Raitakari, T Aittokallio
Publication Date: 2010-09-30

Variant appearance in text: rs12654264
PubMed Link: 20941391
Variant Present in the following documents:
  • pgen.1001146.s004.xls
  • pgen.1001146.s005.xls
View BVdb publication page



Dysregulation of the mevalonate pathway promotes transformation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
JW Clendening, A Pandyra, PC Boutros, S El Ghamrasni, F Khosravi, GA Trentin, A Martirosyan, A Hakem, R Hakem, I Jurisica, LZ Penn
Publication Date: 2010-08-24

Variant appearance in text: rs12654264
PubMed Link: 20696928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease.

American Heart Journal
JL Anderson, BD Horne, NJ Camp, JB Muhlestein, PN Hopkins, LA Cannon-Albright, CP Mower, JJ Park, JL Clarke, ZP Nicholas, JT McKinney, JF Carlquist
Publication Date: 2010-08

Variant appearance in text: rs12654264
PubMed Link: 20691829
Variant Present in the following documents:
  • NIHMS209707-supplement-1.doc
View BVdb publication page



Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
T Zeller, P Wild, S Szymczak, M Rotival, A Schillert, R Castagne, S Maouche, M Germain, K Lackner, H Rossmann, M Eleftheriadis, CR Sinning, RB Schnabel, E Lubos, D Mennerich, W Rust, C Perret, C Proust, V Nicaud, J Loscalzo, N Hübner, D Tregouet, T Münzel, A Ziegler, L Tiret, S Blankenberg, F Cambien
Publication Date: 2010-05-18

Variant appearance in text: rs12654264
PubMed Link: 20502693
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB: very important pharmacogene--HMGCR.

Pharmacogenetics And Genomics
MW Medina, K Sangkuhl, TE Klein, RB Altman
Publication Date: 2011-02

Variant appearance in text: rs12654264
PubMed Link: 20084049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

Circulation. Cardiovascular Genetics
ME Keebler, CL Sanders, A Surti, C Guiducci, NP Burtt, S Kathiresan
Publication Date: 2009-06

Variant appearance in text: rs12654264
PubMed Link: 20031591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
J Ronald, R Rajagopalan, JE Ranchalis, JK Marshall, TS Hatsukami, PJ Heagerty, GP Jarvik
Publication Date: 2009-12-01

Variant appearance in text: rs12654264
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

American Journal Of Human Genetics
PJ Talmud, F Drenos, S Shah, T Shah, J Palmen, C Verzilli, TR Gaunt, J Pallas, R Lovering, K Li, JP Casas, R Sofat, M Kumari, S Rodriguez, T Johnson, SJ Newhouse, A Dominiczak, NJ Samani, M Caulfield, P Sever, A Stanton, DC Shields, S Padmanabhan, O Melander, C Hastie, C Delles, S Ebrahim, MG Marmot, GD Smith, DA Lawlor, PB Munroe, IN Day, M Kivimaki, J Whittaker, SE Humphries, AD Hingorani, , ,
Publication Date: 2009-11

Variant appearance in text: rs12654264
PubMed Link: 19913121
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xls
View BVdb publication page



A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women.

Journal Of Lipid Research
V Hamrefors, M Orho-Melander, RM Krauss, B Hedblad, P Almgren, G Berglund, O Melander
Publication Date: 2010-03

Variant appearance in text: rs12654264
PubMed Link: 19773416
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk.

Arteriosclerosis, Thrombosis, And Vascular Biology
K Musunuru, M Orho-Melander, MP Caulfield, S Li, WA Salameh, RE Reitz, G Berglund, B Hedblad, G Engström, PT Williams, S Kathiresan, O Melander, RM Krauss
Publication Date: 2009-11

Variant appearance in text: rs12654264
PubMed Link: 19729614
Variant Present in the following documents:
  • NIHMS149318-supplement-Supp1.pdf
View BVdb publication page



TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

Journal Of Biomedical Science
TC Lins, BS Abreu, RW Pereira
Publication Date: 2009-08-14

Variant appearance in text: rs12654264
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
S Raychaudhuri, RM Plenge, EJ Rossin, AC Ng, , SM Purcell, P Sklar, EM Scolnick, RJ Xavier, D Altshuler, MJ Daly
Publication Date: 2009-06

Variant appearance in text: rs12654264
PubMed Link: 19557189
Variant Present in the following documents:
  • pgen.1000534.s003.doc
View BVdb publication page



The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.

Lipids
YC Chen, YD Chen, X Li, W Post, D Herrington, JF Polak, JI Rotter, KD Taylor
Publication Date: 2009-08

Variant appearance in text: rs12654264
PubMed Link: 19554360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

European Heart Journal
A Murray, C Cluett, S Bandinelli, AM Corsi, L Ferrucci, J Guralnik, A Singleton, T Frayling, D Melzer
Publication Date: 2009-07

Variant appearance in text: rs12654264
PubMed Link: 19435741
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

Journal Of Lipid Research
MB Lanktree, SS Anand, S Yusuf, RA Hegele,
Publication Date: 2009-07

Variant appearance in text: rs12654264
PubMed Link: 19299407
Variant Present in the following documents:
  • Main text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000287936.4 c.1368+1176A>T - intron_variant - 11/19
ENST00000343975.5 c.1368+1176A>T - intron_variant - 11/18
ENST00000511206.1 c.1368+1176A>T - intron_variant - 11/19
NM_000859.3 c.1368+1176A>T - intron_variant - 11/19
NM_001130996.1 c.1368+1176A>T - intron_variant - 11/18
NM_001364187.1 c.1368+1176A>T - intron_variant - 11/19