Variant ID: 9-107647220-C-T

NM_005502.3(ABCA1):c.161-371G>A

This variant was identified in 52 publications




Publications:


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: rs4149268
PubMed Link: 31551469
Variant Present in the following documents:
  • 41467_2019_11954_MOESM13_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: rs4149268
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
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: rs4149268
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: rs4149268
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: rs4149268
PubMed Link: 30518135
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: rs4149268
PubMed Link: 29084231
Variant Present in the following documents:
  • 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: rs4149268
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Data to genetic risk assessment on high-density cholesterol level associated polymorphisms in Hungarian general and Roma populations.

Data In Brief
P Pikó, S Fiatal, Z Kósa, J Sándor, R Ádány
Publication Date: 2017-10

Variant appearance in text: rs4149268
PubMed Link: 28795114
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: rs4149268
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: rs4149268
PubMed Link: 28371326
Variant Present in the following documents:
  • JCMM-21-1106-s002.xlsx
View BVdb publication page



Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European Journal Of Human Genetics : Ejhg
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
Publication Date: 2016-04

Variant appearance in text: rs4149268
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: rs4149268
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: rs4149268
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
View BVdb publication page



Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans.

Bmc Complementary And Alternative Medicine
SK Chung, H Yu, AY Park, JY Kim, S Cha
Publication Date: 2014-07-09

Variant appearance in text: rs4149268
PubMed Link: 25005712
Variant Present in the following documents:
  • 1472-6882-14-230-S1.xls
View BVdb publication page



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

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

Variant appearance in text: rs4149268
PubMed Link: 24890013
Variant Present in the following documents:
  • 12263_2014_412_MOESM1_ESM.pdf
  • 12263_2014_412_MOESM2_ESM.pdf
  • 12263_2014_412_MOESM3_ESM.pdf
  • 12263_2014_412_MOESM4_ESM.pdf
View BVdb publication page



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: rs4149268
PubMed Link: 24622110
Variant Present in the following documents:
  • NIHMS575195-supplement-000173_-_Supplemental_Material.pdf
View BVdb publication page



Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).

Bmc Medical Genetics
R Goodloe, K Brown-Gentry, NB Gillani, H Jin, P Mayo, M Allen, B McClellan, J Boston, C Sutcliffe, N Schnetz-Boutaud, HH Dilks, DC Crawford
Publication Date: 2013-11-21

Variant appearance in text: rs4149268
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
  • aaaaaMain 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: rs4149268
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: rs4149268
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: rs4149268
PubMed Link: 24068893
Variant Present in the following documents:
  • pbio.1001661.s003.xlsx
  • pbio.1001661.s004.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: rs4149268
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: rs4149268
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.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: rs4149268
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: rs4149268
PubMed Link: 23190900
Variant Present in the following documents:
  • NIHMS404713-supplement-01.pdf
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: rs4149268
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: rs4149268
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.xls
  • pone.0046385.s003.xls
  • pone.0046385.s004.xls
  • pone.0046385.s005.xls
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
S Huhn, M Bevier, A Rudolph, B Pardini, A Naccarati, R Hein, M Hoffmeister, L Vodickova, J Novotny, H Brenner, J Chang-Claude, K Hemminki, P Vodicka, A Försti
Publication Date: 2012-10-05

Variant appearance in text: rs4149268
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
  • aaaaaMain text
View BVdb publication page



Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
G Lucas, C Lluís-Ganella, I Subirana, MD Musameh, JR Gonzalez, CP Nelson, M Sentí, , , SM Schwartz, D Siscovick, CJ O'Donnell, O Melander, V Salomaa, S Purcell, D Altshuler, NJ Samani, S Kathiresan, R Elosua
Publication Date: 2012

Variant appearance in text: rs4149268
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
View BVdb publication page



Evolutionary responses to a constructed niche: ancient Mesoamericans as a model of gene-culture coevolution.

Plos One
T Hünemeier, CE Amorim, S Azevedo, V Contini, V Acuña-Alonzo, F Rothhammer, JM Dugoujon, S Mazières, R Barrantes, MT Villarreal-Molina, VR Paixão-Côrtes, FM Salzano, S Canizales-Quinteros, A Ruiz-Linares, MC Bortolini
Publication Date: 2012

Variant appearance in text: rs4149268
PubMed Link: 22768049
Variant Present in the following documents:
  • Main text
  • pone.0038862.s004.docx
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: rs4149268
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
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: rs4149268
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: rs4149268
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
A Windemuth, J de Leon, JW Goethe, HI Schwartz, S Woolley, M Susce, M Kocherla, K Bogaard, TR Holford, RL Seip, G Ruaño
Publication Date: 2012-03-30

Variant appearance in text: rs4149268
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke
Publication Date: 2011-08

Variant appearance in text: rs4149268
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s016.xls
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: rs4149268
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: rs4149268
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.s015.doc
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: rs4149268
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: rs4149268
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
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: rs4149268
PubMed Link: 20876667
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: rs4149268
PubMed Link: 20691829
Variant Present in the following documents:
  • NIHMS209707-supplement-1.doc
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: rs4149268
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: rs4149268
PubMed Link: 20406164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association of lipid-lowering response to statins in combined study populations.

Plos One
MJ Barber, LM Mangravite, CL Hyde, DI Chasman, JD Smith, CA McCarty, X Li, RA Wilke, MJ Rieder, PT Williams, PM Ridker, A Chatterjee, JI Rotter, DA Nickerson, M Stephens, RM Krauss
Publication Date: 2010-03-22

Variant appearance in text: rs4149268
PubMed Link: 20339536
Variant Present in the following documents:
  • pone.0009763.s008.xls
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics
DI Chasman, G Paré, RY Zee, AN Parker, NR Cook, JE Buring, DJ Kwiatkowski, LM Rose, JD Smith, PT Williams, MJ Rieder, JI Rotter, DA Nickerson, RM Krauss, JP Miletich, PM Ridker
Publication Date: 2008-10

Variant appearance in text: rs4149268
PubMed Link: 19802338
Variant Present in the following documents:
  • Main text
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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: rs4149268
PubMed Link: 19606474
Variant Present in the following documents:
  • Main text
  • NIHMS143316-supplement-Supp_data_01.pdf
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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: rs4149268
PubMed Link: 19435741
Variant Present in the following documents:
  • Main text
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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: rs4149268
PubMed Link: 19429595
Variant Present in the following documents:
  • Main text
  • NIHMS312482-supplement-Supplemental_Tables.doc
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Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

American Journal Of Human Genetics
L Ferrucci, JR Perry, A Matteini, M Perola, T Tanaka, K Silander, N Rice, D Melzer, A Murray, C Cluett, LP Fried, D Albanes, AM Corsi, A Cherubini, J Guralnik, S Bandinelli, A Singleton, J Virtamo, J Walston, RD Semba, TM Frayling
Publication Date: 2009-02

Variant appearance in text: rs4149268
PubMed Link: 19185284
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: rs4149268
PubMed Link: 19060910
Variant Present in the following documents:
  • Main text
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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: rs4149268
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human Molecular Genetics
KL Mohlke, M Boehnke, GR Abecasis
Publication Date: 2008-10-15

Variant appearance in text: rs4149268
PubMed Link: 18852197
Variant Present in the following documents:
  • Main text
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Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
CJ Willer, S Sanna, AU Jackson, A Scuteri, LL Bonnycastle, R Clarke, SC Heath, NJ Timpson, SS Najjar, HM Stringham, J Strait, WL Duren, A Maschio, F Busonero, A Mulas, G Albai, AJ Swift, MA Morken, N Narisu, D Bennett, S Parish, H Shen, P Galan, P Meneton, S Hercberg, D Zelenika, WM Chen, Y Li, LJ Scott, PA Scheet, J Sundvall, RM Watanabe, R Nagaraja, S Ebrahim, DA Lawlor, Y Ben-Shlomo, G Davey-Smith, AR Shuldiner, R Collins, RN Bergman, M Uda, J Tuomilehto, A Cao, FS Collins, E Lakatta, GM Lathrop, M Boehnke, D Schlessinger, KL Mohlke, GR Abecasis
Publication Date: 2008-02

Variant appearance in text: rs4149268
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
  • NIHMS836655-supplement-Supplementary_Material.pdf
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374733.1 c.-20-371G>A - intron_variant - 2/4
ENST00000374736.3 c.161-371G>A - intron_variant - 3/49
ENST00000423487.2 c.161-371G>A - intron_variant - 3/7
NM_005502.4 c.161-371G>A - intron_variant - 3/49