Variant ID: 9-107647655-G-A

NM_005502.3(ABCA1):c.161-806C>T

This variant was identified in 70 publications




Publications:


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

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

Variant appearance in text: rs3890182
PubMed Link: 31566214
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: rs3890182
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



A Birth Cohort Study on the Genetic Modification of the Association of Prenatal Methylmercury With Child Cognitive Development.

American Journal Of Epidemiology
J Julvez, G Davey Smith, S Ring, P Grandjean
Publication Date: 2019-10-01

Variant appearance in text: rs3890182
PubMed Link: 31241132
Variant Present in the following documents:
  • Main text
  • kwz156_julvez_web_material_final.pdf
View BVdb publication page



Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

Plos One
AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang
Publication Date: 2019

Variant appearance in text: rs3890182
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients
S Galmés, F Serra, A Palou
Publication Date: 2018-12-04

Variant appearance in text: rs3890182
PubMed Link: 30518135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
AS Geller, EY Polisecki, MR Diffenderfer, BF Asztalos, SK Karathanasis, RA Hegele, EJ Schaefer
Publication Date: 2018-12

Variant appearance in text: rs3890182
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
  • jlrM088203.pdf
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: rs3890182
PubMed Link: 29084231
Variant Present in the following documents:
  • Main text
  • pgen.1007079.s007.pdf
  • 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: rs3890182
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
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: rs3890182
PubMed Link: 28577571
Variant Present in the following documents:
  • 12944_2017_488_MOESM1_ESM.xlsx
  • aaaaaMain text
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: rs3890182
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



The Contribution of GWAS Loci in Familial Dyslipidemias.

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

Variant appearance in text: rs3890182
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
  • pgen.1006078.s009.pdf
View BVdb publication page



Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.

International Journal Of Environmental Research And Public Health
MH Yao, J He, RL Ma, YS Ding, H Guo, YZ Yan, JY Zhang, JM Liu, M Zhang, DS Rui, Q Niu, SX Guo
Publication Date: 2016-02-15

Variant appearance in text: rs3890182
PubMed Link: 26891315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China.

International Journal Of Environmental Research And Public Health
MH Yao, H Guo, J He, YZ Yan, RL Ma, YS Ding, JY Zhang, JM Liu, M Zhang, SG Li, SZ Xu, Q Niu, JL Ma, SX Guo
Publication Date: 2016-01-28

Variant appearance in text: rs3890182
PubMed Link: 26828509
Variant Present in the following documents:
  • Main text
View BVdb publication page



INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
Publication Date: 2016

Variant appearance in text: rs3890182
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes.

Plos One
X Kong, Q Zhao, X Xing, B Zhang, X Zhang, J Hong, W Yang
Publication Date: 2015

Variant appearance in text: rs3890182
PubMed Link: 26252223
Variant Present in the following documents:
  • Main text
  • pone.0135145.s001.docx
  • pone.0135145.s002.docx
  • pone.0135145.s004.docx
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: rs3890182
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: rs3890182
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
MA Hall, A Verma, KD Brown-Gentry, R Goodloe, J Boston, S Wilson, B McClellan, C Sutcliffe, HH Dilks, NB Gillani, H Jin, P Mayo, M Allen, N Schnetz-Boutaud, DC Crawford, MD Ritchie, SA Pendergrass
Publication Date: 2014-12

Variant appearance in text: rs3890182
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
View BVdb publication page



A comparative encyclopedia of DNA elements in the mouse genome.

Nature
F Yue, Y Cheng, A Breschi, J Vierstra, W Wu, T Ryba, R Sandstrom, Z Ma, C Davis, BD Pope, Y Shen, DD Pervouchine, S Djebali, RE Thurman, R Kaul, E Rynes, A Kirilusha, GK Marinov, BA Williams, D Trout, H Amrhein, K Fisher-Aylor, I Antoshechkin, G DeSalvo, LH See, M Fastuca, J Drenkow, C Zaleski, A Dobin, P Prieto, J Lagarde, G Bussotti, A Tanzer, O Denas, K Li, MA Bender, M Zhang, R Byron, MT Groudine, D McCleary, L Pham, Z Ye, S Kuan, L Edsall, YC Wu, MD Rasmussen, MS Bansal, M Kellis, CA Keller, CS Morrissey, T Mishra, D Jain, N Dogan, RS Harris, P Cayting, T Kawli, AP Boyle, G Euskirchen, A Kundaje, S Lin, Y Lin, C Jansen, VS Malladi, MS Cline, DT Erickson, VM Kirkup, K Learned, CA Sloan, KR Rosenbloom, B Lacerda de Sousa, K Beal, M Pignatelli, P Flicek, J Lian, T Kahveci, D Lee, WJ Kent, M Ramalho Santos, J Herrero, C Notredame, A Johnson, S Vong, K Lee, D Bates, F Neri, M Diegel, T Canfield, PJ Sabo, MS Wilken, TA Reh, E Giste, A Shafer, T Kutyavin, E Haugen, D Dunn, AP Reynolds, S Neph, R Humbert, RS Hansen, M De Bruijn, L Selleri, A Rudensky, S Josefowicz, R Samstein, EE Eichler, SH Orkin, D Levasseur, T Papayannopoulou, KH Chang, A Skoultchi, S Gosh, C Disteche, P Treuting, Y Wang, MJ Weiss, GA Blobel, X Cao, S Zhong, T Wang, PJ Good, RF Lowdon, LB Adams, XQ Zhou, MJ Pazin, EA Feingold, B Wold, J Taylor, A Mortazavi, SM Weissman, JA Stamatoyannopoulos, MP Snyder, R Guigo, TR Gingeras, DM Gilbert, RC Hardison, MA Beer, B Ren,
Publication Date: 2014-11-20

Variant appearance in text: rs3890182
PubMed Link: 25409824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Investigative Ophthalmology & Visual Science
NA Restrepo, KL Spencer, R Goodloe, TA Garrett, G Heiss, P Bůžková, N Jorgensen, RA Jensen, TC Matise, LA Hindorff, BE Klein, R Klein, TY Wong, CY Cheng, BK Cornes, ES Tai, MD Ritchie, JL Haines, DC Crawford
Publication Date: 2014-09-09

Variant appearance in text: rs3890182
PubMed Link: 25205864
Variant Present in the following documents:
  • Main text
View BVdb publication page



An in-silico model of lipoprotein metabolism and kinetics for the evaluation of targets and biomarkers in the reverse cholesterol transport pathway.

Plos Computational Biology
J Lu, K Hübner, MN Nanjee, EA Brinton, NA Mazer
Publication Date: 2014-03

Variant appearance in text: rs3890182
PubMed Link: 24625468
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3890182
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
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: rs3890182
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
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: rs3890182
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: rs3890182
PubMed Link: 24100633
Variant Present in the following documents:
  • NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx
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: rs3890182
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs3890182
PubMed Link: 23799899
Variant Present in the following documents:
  • Main text
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: rs3890182
PubMed Link: 23634756
Variant Present in the following documents:
  • 1471-2156-14-33-S1.pdf
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: rs3890182
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: rs3890182
PubMed Link: 23468967
Variant Present in the following documents:
  • pone.0057310.s005.pdf
View BVdb publication page



Linear regression in genetic association studies.

Plos One
P Bůžková
Publication Date: 2013

Variant appearance in text: rs3890182
PubMed Link: 23437286
Variant Present in the following documents:
  • Main text
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: rs3890182
PubMed Link: 23382687
Variant Present in the following documents:
  • pgen.1003087.s001.xlsx
View BVdb publication page



Association of cardiovascular and metabolic disease genes with psoriasis.

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

Variant appearance in text: rs3890182
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
View BVdb publication page



Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study.

Cardiovascular Diabetology
CM Povel, JM Boer, NC Onland-Moret, ME Dollé, EJ Feskens, YT van der Schouw
Publication Date: 2012-10-29

Variant appearance in text: rs3890182
PubMed Link: 23101478
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: rs3890182
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: rs3890182
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.xls
  • pone.0046385.s003.xls
  • pone.0046385.s004.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: rs3890182
PubMed Link: 23018797
Variant Present in the following documents:
  • Main text
View BVdb publication page



TRIB1 constitutes a molecular link between regulation of sleep and lipid metabolism in humans.

Translational Psychiatry
HM Ollila, S Utge, E Kronholm, V Aho, W Van Leeuwen, K Silander, T Partonen, M Perola, J Kaprio, V Salomaa, M Sallinen, M Härmä, T Porkka-Heiskanen, T Paunio
Publication Date: 2012-03-20

Variant appearance in text: rs3890182
PubMed Link: 22832862
Variant Present in the following documents:
  • tp201220x1.pdf
View BVdb publication page



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

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

Variant appearance in text: rs3890182
PubMed Link: 22607825
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: rs3890182
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: rs3890182
PubMed Link: 22403240
Variant Present in the following documents:
  • NIHMS369440-supplement-01.pdf
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: rs3890182
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.

European Heart Journal
A Angelakopoulou, T Shah, R Sofat, S Shah, DJ Berry, J Cooper, J Palmen, I Tzoulaki, A Wong, BJ Jefferis, N Maniatis, F Drenos, B Gigante, R Hardy, RC Laxton, K Leander, A Motterle, IA Simpson, L Smeeth, A Thomson, C Verzilli, D Kuh, H Ireland, J Deanfield, M Caulfield, C Wallace, N Samani, PB Munroe, M Lathrop, FG Fowkes, M Marmot, PH Whincup, JC Whittaker, U de Faire, M Kivimaki, M Kumari, E Hypponen, C Power, SE Humphries, PJ Talmud, J Price, RW Morris, S Ye, JP Casas, AD Hingorani
Publication Date: 2012-02

Variant appearance in text: rs3890182
PubMed Link: 21804106
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: rs3890182
PubMed Link: 21777205
Variant Present in the following documents:
  • NIHMS304382-supplement-Supp_Table_S1-S4.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: rs3890182
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: rs3890182
PubMed Link: 21347282
Variant Present in the following documents:
  • pgen.1001300.s016.doc
  • pgen.1001300.s017.doc
View BVdb publication page



Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics
AC Edmondson, PS Braund, IM Stylianou, AV Khera, CP Nelson, ML Wolfe, SL Derohannessian, BJ Keating, L Qu, J He, MD Tobin, M Tomaszewski, J Baumert, N Klopp, A Döring, B Thorand, M Li, MP Reilly, W Koenig, NJ Samani, DJ Rader
Publication Date: 2011-04

Variant appearance in text: rs3890182
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
View BVdb publication page



Genetic predisposition influences plasma lipids of participants on habitual diet, but not the response to reductions in dietary intake of saturated fatty acids.

Atherosclerosis
CG Walker, RJ Loos, AD Olson, GS Frost, BA Griffin, JA Lovegrove, TA Sanders, SA Jebb
Publication Date: 2011-04

Variant appearance in text: rs3890182
PubMed Link: 21292264
Variant Present in the following documents:
  • mmc2.pdf
  • mmc3.doc
  • mmc4.pdf
  • mmc5.pdf
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: rs3890182
PubMed Link: 21249183
Variant Present in the following documents:
  • pgen.1001273.s011.xls
  • pgen.1001273.s012.xls
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: rs3890182
PubMed Link: 20941391
Variant Present in the following documents:
  • Main text
  • pgen.1001146.s004.xls
  • pgen.1001146.s005.xls
  • pgen.1001146.s007.xls
  • pgen.1001146.s008.xls
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs3890182
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
DM Waterworth, SL Ricketts, K Song, L Chen, JH Zhao, S Ripatti, YS Aulchenko, W Zhang, X Yuan, N Lim, J Luan, S Ashford, E Wheeler, EH Young, D Hadley, JR Thompson, PS Braund, T Johnson, M Struchalin, I Surakka, R Luben, KT Khaw, SA Rodwell, RJ Loos, SM Boekholdt, M Inouye, P Deloukas, P Elliott, D Schlessinger, S Sanna, A Scuteri, A Jackson, KL Mohlke, J Tuomilehto, R Roberts, A Stewart, YA Kesäniemi, RW Mahley, SM Grundy, , W McArdle, L Cardon, G Waeber, P Vollenweider, JC Chambers, M Boehnke, GR Abecasis, V Salomaa, MR Järvelin, A Ruokonen, I Barroso, SE Epstein, HH Hakonarson, DJ Rader, MP Reilly, JC Witteman, AS Hall, NJ Samani, DP Strachan, P Barter, CM van Duijn, JS Kooner, L Peltonen, NJ Wareham, R McPherson, V Mooser, MS Sandhu
Publication Date: 2010-11

Variant appearance in text: rs3890182
PubMed Link: 20864672
Variant Present in the following documents:
  • Main text
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: rs3890182
PubMed Link: 20502693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
D Weissglas-Volkov, P Pajukanta
Publication Date: 2010-08

Variant appearance in text: rs3890182
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of obesity and the metabolic syndrome.

Endocrine, Metabolic & Immune Disorders Drug Targets
KL Monda, KE North, SC Hunt, DC Rao, MA Province, AT Kraja
Publication Date: 2010-06

Variant appearance in text: rs3890182
PubMed Link: 20406164
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: rs3890182
PubMed Link: 20031591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

Bmc Proceedings
JS Hamid, NM Roslin, AD Paterson, J Beyene
Publication Date: 2009-12-15

Variant appearance in text: rs3890182
PubMed Link: 20018036
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: rs3890182
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: rs3890182
PubMed Link: 19913121
Variant Present in the following documents:
  • mmc1.pdf
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: rs3890182
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: rs3890182
PubMed Link: 19729614
Variant Present in the following documents:
  • NIHMS149318-supplement-Supp1.pdf
View BVdb publication page



A survey of ABCA1 sequence variation confirms association with dementia.

Human Mutation
CA Reynolds, MG Hong, UK Eriksson, K Blennow, AM Bennet, B Johansson, B Malmberg, S Berg, F Wiklund, M Gatz, NL Pedersen, JA Prince
Publication Date: 2009-09

Variant appearance in text: rs3890182
PubMed Link: 19606474
Variant Present in the following documents:
  • Main text
  • NIHMS143316-supplement-Supp_data_01.pdf
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: rs3890182
PubMed Link: 19557189
Variant Present in the following documents:
  • pgen.1000534.s003.doc
View BVdb publication page



Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study.

Journal Of Medical Genetics
X Li, KL Monda, HH Göring, K Haack, SA Cole, VP Diego, L Almasy, S Laston, BV Howard, NM Shara, ET Lee, LG Best, RR Fabsitz, JW MacCluer, KE North
Publication Date: 2009-07

Variant appearance in text: rs3890182
PubMed Link: 19429595
Variant Present in the following documents:
  • Main text
  • NIHMS312482-supplement-Supplemental_Tables.doc
View BVdb publication page



Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Plos Genetics
JK Lowe, JB Maller, I Pe'er, BM Neale, J Salit, EE Kenny, JL Shea, R Burkhardt, JG Smith, W Ji, M Noel, JN Foo, ML Blundell, V Skilling, L Garcia, ML Sullivan, HE Lee, A Labek, H Ferdowsian, SB Auerbach, RP Lifton, C Newton-Cheh, JL Breslow, M Stoffel, MJ Daly, DM Altshuler, JM Friedman
Publication Date: 2009-02

Variant appearance in text: rs3890182
PubMed Link: 19197348
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

Plos Genetics
RC Deo, D Reich, A Tandon, E Akylbekova, N Patterson, A Waliszewska, S Kathiresan, D Sarpong, HA Taylor, JG Wilson
Publication Date: 2009-01

Variant appearance in text: rs3890182
PubMed Link: 19148283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature Genetics
C Sabatti, SK Service, AL Hartikainen, A Pouta, S Ripatti, J Brodsky, CG Jones, NA Zaitlen, T Varilo, M Kaakinen, U Sovio, A Ruokonen, J Laitinen, E Jakkula, L Coin, C Hoggart, A Collins, H Turunen, S Gabriel, P Elliot, MI McCarthy, MJ Daly, MR Järvelin, NB Freimer, L Peltonen
Publication Date: 2009-01

Variant appearance in text: rs3890182
PubMed Link: 19060910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
Publication Date: 2009-03

Variant appearance in text: rs3890182
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Nature Genetics
S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, GM Cooper, C Roos, BF Voight, AS Havulinna, B Wahlstrand, T Hedner, D Corella, ES Tai, JM Ordovas, G Berglund, E Vartiainen, P Jousilahti, B Hedblad, MR Taskinen, C Newton-Cheh, V Salomaa, L Peltonen, L Groop, DM Altshuler, M Orho-Melander
Publication Date: 2008-02

Variant appearance in text: rs3890182
PubMed Link: 18193044
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

American Journal Of Human Genetics
C Wallace, SJ Newhouse, P Braund, F Zhang, M Tobin, M Falchi, K Ahmadi, RJ Dobson, AC Marçano, C Hajat, P Burton, P Deloukas, M Brown, JM Connell, A Dominiczak, GM Lathrop, J Webster, M Farrall, T Spector, NJ Samani, MJ Caulfield, PB Munroe
Publication Date: 2008-01

Variant appearance in text: rs3890182
PubMed Link: 18179892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374733.1 c.-20-806C>T - intron_variant - 2/4
ENST00000374736.3 c.161-806C>T - intron_variant - 3/49
ENST00000423487.2 c.161-806C>T - intron_variant - 3/7
NM_005502.4 c.161-806C>T - intron_variant - 3/49