Variant ID: 11-116652207-C-T

NM_003904.3(ZPR1):c.1179+667G>A

This variant was identified in 57 publications




Publications:


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: rs12286037
PubMed Link: 31039173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

Bmc Medical Genomics
DC Crawford, NA Restrepo, KE Diggins, E Farber-Eger, QS Wells
Publication Date: 2018-09-14

Variant appearance in text: rs12286037
PubMed Link: 30255797
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: rs12286037
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
View BVdb publication page



Transforming growth factor-β signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population.

Scientific Reports
E Lin, PH Kuo, YL Liu, AC Yang, SJ Tsai
Publication Date: 2017-10-19

Variant appearance in text: rs12286037
PubMed Link: 29051557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

Plos One
LC Pilling, JL Atkins, MO Duff, RN Beaumont, SE Jones, J Tyrrell, CL Kuo, KS Ruth, MA Tuke, H Yaghootkar, AR Wood, A Murray, MN Weedon, LW Harries, GA Kuchel, L Ferrucci, TM Frayling, D Melzer
Publication Date: 2017

Variant appearance in text: rs12286037
PubMed Link: 28957414
Variant Present in the following documents:
  • pone.0185083.s004.xlsx
View BVdb publication page



Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

Plos One
A Yeo, L Li, L Warren, J Aponte, D Fraser, K King, K Johansson, A Barnes, C MacPhee, R Davies, S Chissoe, E Tarka, ML O'Donoghue, HD White, L Wallentin, D Waterworth
Publication Date: 2017

Variant appearance in text: rs12286037
PubMed Link: 28753643
Variant Present in the following documents:
  • pone.0182115.s015.xlsx
  • pone.0182115.s016.xlsx
View BVdb publication page



Association of BUD13 polymorphisms with metabolic syndrome in Chinese population: a case-control study.

Lipids In Health And Disease
L Zhang, Y You, Y Wu, Y Zhang, M Wang, Y Song, X Liu, C Kou
Publication Date: 2017-06-28

Variant appearance in text: rs12286037
PubMed Link: 28659142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
L Southam, A Gilly, D Süveges, AE Farmaki, J Schwartzentruber, I Tachmazidou, A Matchan, NW Rayner, E Tsafantakis, M Karaleftheri, Y Xue, G Dedoussis, E Zeggini
Publication Date: 2017-05-26

Variant appearance in text: rs12286037
PubMed Link: 28548082
Variant Present in the following documents:
  • ncomms15606-s1.pdf
View BVdb publication page



Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.

Human Molecular Genetics
N Zubair, M Graff, J Luis Ambite, WS Bush, G Kichaev, Y Lu, A Manichaikul, WH Sheu, D Absher, TL Assimes, SJ Bielinski, EP Bottinger, P Buzkova, LM Chuang, RH Chung, B Cochran, L Dumitrescu, O Gottesman, JW Haessler, C Haiman, G Heiss, CA Hsiung, YJ Hung, CM Hwu, JJ Juang, L Le Marchand, IT Lee, WJ Lee, LA Lin, D Lin, SY Lin, RH Mackey, LW Martin, B Pasaniuc, U Peters, I Predazzi, T Quertermous, AP Reiner, J Robinson, JI Rotter, KK Ryckman, PJ Schreiner, E Stahl, R Tao, MY Tsai, LL Waite, TD Wang, S Buyske, YD Ida Chen, I Cheng, DC Crawford, RJF Loos, SS Rich, M Fornage, KE North, C Kooperberg, CL Carty
Publication Date: 2016-12-15

Variant appearance in text: rs12286037
PubMed Link: 28426890
Variant Present in the following documents:
  • Main text
  • ddw358_supp.docx
View BVdb publication page



Two-stage association study to identify the genetic susceptibility of a novel common variant of rs2075290 in ZPR1 to type 2 diabetes.

Scientific Reports
F Guan, Y Niu, T Zhang, S Liu, L Ma, T Qi, J Feng, H Zuo, G Li, X Liu, S Wang
Publication Date: 2016-07-14

Variant appearance in text: rs12286037
PubMed Link: 27411854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India.

Plos One
R Pranav Chand, AS Kumar, K Anuj, S Vishnupriya, B Mohan Reddy
Publication Date: 2016

Variant appearance in text: rs12286037
PubMed Link: 27257688
Variant Present in the following documents:
  • Main text
  • pone.0153720.s002.docx
  • pone.0153720.s003.xlsx
View BVdb publication page



Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
JE Below, EJ Parra, ER Gamazon, J Torres, S Krithika, S Candille, Y Lu, A Manichakul, J Peralta-Romero, Q Duan, Y Li, AP Morris, O Gottesman, E Bottinger, XQ Wang, KD Taylor, YD Ida Chen, JI Rotter, SS Rich, RJ Loos, H Tang, NJ Cox, M Cruz, CL Hanis, A Valladares-Salgado
Publication Date: 2016-01-19

Variant appearance in text: rs12286037
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s3.xls
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: rs12286037
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



The interaction of Apolipoprotein A5 gene promoter region T-1131C polymorphism (rs12286037) and lifestyle modification on plasma triglyceride levels in Japanese.

Nutrition Research And Practice
M Yamasaki, PB Mutombo, M Iwamoto, A Nogi, M Hashimoto, T Nabika, K Shiwaku
Publication Date: 2015-08

Variant appearance in text: rs12286037
PubMed Link: 26244076
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: rs12286037
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: rs12286037
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
S Rodriguez, TR Gaunt, Y Guo, J Zheng, MR Barnes, W Tang, F Danish, A Johnson, BA Castillo, YR Li, H Hakonarson, SG Buxbaum, T Palmer, MY Tsai, LA Lange, S Ebrahim, G Davey Smith, DA Lawlor, AR Folsom, R Hoogeveen, A Reiner, B Keating, IN Day
Publication Date: 2016-01

Variant appearance in text: rs12286037
PubMed Link: 25920552
Variant Present in the following documents:
  • ejhg201563x1.doc
View BVdb publication page



Burden of disease variants in participants of the Long Life Family Study.

Aging
M Stevenson, H Bae, N Schupf, S Andersen, Q Zhang, T Perls, P Sebastiani
Publication Date: 2015-02

Variant appearance in text: rs12286037
PubMed Link: 25664523
Variant Present in the following documents:
  • aging-07-0123-s001.docx
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: rs12286037
PubMed Link: 25474351
Variant Present in the following documents:
  • pgen.1004678.s007.xlsx
  • pgen.1004678.s008.xlsx
  • pgen.1004678.s009.xlsx
  • pgen.1004678.s011.xlsx
View BVdb publication page



Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.

Circulation. Cardiovascular Genetics
DC Crawford, L Dumitrescu, R Goodloe, K Brown-Gentry, J Boston, B McClellan, C Sutcliffe, R Wiseman, P Baker, MA Pericak-Vance, WK Scott, M Allen, P Mayo, N Schnetz-Boutaud, HH Dilks, JL Haines, TI Pollin
Publication Date: 2014-12

Variant appearance in text: rs12286037
PubMed Link: 25363704
Variant Present in the following documents:
  • NIHMS640711-supplement-000369_-_Supplemental_Material.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: rs12286037
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: rs12286037
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
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: rs12286037
PubMed Link: 24256507
Variant Present in the following documents:
  • 1471-2350-14-120-S1.doc
View BVdb publication page



Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip.

Thrombosis And Haemostasis
TR Gaunt, D Zabaneh, S Shah, A Guyatt, C Ladroue, M Kumari, F Drenos, T Shah, PJ Talmud, JP Casas, G Lowe, A Rumley, DA Lawlor, M Kivimaki, J Whittaker, AD Hingorani, SE Humphries, IN Day
Publication Date: 2013-11

Variant appearance in text: rs12286037
PubMed Link: 24178511
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: rs12286037
PubMed Link: 24135527
Variant Present in the following documents:
  • NIHMS527173-supplement-01.pdf
View BVdb publication page



Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

Journal Of Lipid Research
Y Wu, AF Marvelle, J Li, DC Croteau-Chonka, AB Feranil, CW Kuzawa, Y Li, LS Adair, KL Mohlke
Publication Date: 2013-11

Variant appearance in text: rs12286037
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
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: rs12286037
PubMed Link: 23940718
Variant Present in the following documents:
  • pone.0071203.s003.xlsx
View BVdb publication page



Do genetic modifiers of high-density lipoprotein cholesterol and triglyceride levels also modify their response to a lifestyle intervention in the setting of obesity and type-2 diabetes mellitus?: The Action for Health in Diabetes (Look AHEAD) study.

Circulation. Cardiovascular Genetics
GS Huggins, GD Papandonatos, B Erar, LM Belalcazar, A Brautbar, C Ballantyne, AE Kitabchi, LE Wagenknecht, WC Knowler, HJ Pownall, RR Wing, I Peter, JM McCaffery,
Publication Date: 2013-08

Variant appearance in text: rs12286037
PubMed Link: 23861364
Variant Present in the following documents:
  • Main 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: rs12286037
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.pdf
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: rs12286037
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
View BVdb publication page



Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
CC Elbers, Y Guo, V Tragante, EP van Iperen, MB Lanktree, BA Castillo, F Chen, LR Yanek, MK Wojczynski, YR Li, B Ferwerda, CM Ballantyne, SG Buxbaum, YD Chen, WM Chen, LA Cupples, M Cushman, Y Duan, D Duggan, MK Evans, JK Fernandes, M Fornage, M Garcia, WT Garvey, N Glazer, F Gomez, TB Harris, I Halder, VJ Howard, MF Keller, MI Kamboh, C Kooperberg, SB Kritchevsky, A LaCroix, K Liu, Y Liu, K Musunuru, AB Newman, NC Onland-Moret, J Ordovas, I Peter, W Post, S Redline, SE Reis, R Saxena, PJ Schreiner, KA Volcik, X Wang, S Yusuf, AB Zonderland, SS Anand, DM Becker, B Psaty, DJ Rader, AP Reiner, SS Rich, JI Rotter, MM Sale, MY Tsai, IB Borecki, RA Hegele, S Kathiresan, MA Nalls, HA Taylor, H Hakonarson, S Sivapalaratnam, FW Asselbergs, F Drenos, JG Wilson, BJ Keating
Publication Date: 2012

Variant appearance in text: rs12286037
PubMed Link: 23236364
Variant Present in the following documents:
  • pone.0050198.s002.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: rs12286037
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: rs12286037
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: rs12286037
PubMed Link: 23050023
Variant Present in the following documents:
  • pone.0046385.s002.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: rs12286037
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides.

Plos One
TR Braun, LF Been, A Singhal, J Worsham, S Ralhan, GS Wander, JC Chambers, JS Kooner, CE Aston, DK Sanghera
Publication Date: 2012

Variant appearance in text: rs12286037
PubMed Link: 22623978
Variant Present in the following documents:
  • Main text
  • pone.0037056.s004.docx
  • pone.0037056.s005.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: rs12286037
PubMed Link: 22433082
Variant Present in the following documents:
  • mmc1.xls
View BVdb publication page



Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

Nature Genetics
J Kettunen, T Tukiainen, AP Sarin, A Ortega-Alonso, E Tikkanen, LP Lyytikäinen, AJ Kangas, P Soininen, P Würtz, K Silander, DM Dick, RJ Rose, MJ Savolainen, J Viikari, M Kähönen, T Lehtimäki, KH Pietiläinen, M Inouye, MI McCarthy, A Jula, J Eriksson, OT Raitakari, V Salomaa, J Kaprio, MR Järvelin, L Peltonen, M Perola, NB Freimer, M Ala-Korpela, A Palotie, S Ripatti
Publication Date: 2012-01-29

Variant appearance in text: rs12286037
PubMed Link: 22286219
Variant Present in the following documents:
  • NIHMS444574-supplement-supplementary_table_2.xlsx
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: rs12286037
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: rs12286037
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: rs12286037
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: rs12286037
PubMed Link: 21829388
Variant Present in the following documents:
  • pgen.1002197.s016.xls
View BVdb publication page



A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

Diabetes
AT Kraja, D Vaidya, JS Pankow, MO Goodarzi, TL Assimes, IJ Kullo, U Sovio, RA Mathias, YV Sun, N Franceschini, D Absher, G Li, Q Zhang, MF Feitosa, NL Glazer, T Haritunians, AL Hartikainen, JW Knowles, KE North, C Iribarren, B Kral, L Yanek, PF O'Reilly, MI McCarthy, C Jaquish, DJ Couper, A Chakravarti, BM Psaty, LC Becker, MA Province, E Boerwinkle, T Quertermous, L Palotie, MR Jarvelin, DM Becker, SL Kardia, JI Rotter, YD Chen, IB Borecki
Publication Date: 2011-04

Variant appearance in text: rs12286037
PubMed Link: 21386085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

Nature Genetics
H Schunkert, IR König, S Kathiresan, MP Reilly, TL Assimes, H Holm, M Preuss, AF Stewart, M Barbalic, C Gieger, D Absher, Z Aherrahrou, H Allayee, D Altshuler, SS Anand, K Andersen, JL Anderson, D Ardissino, SG Ball, AJ Balmforth, TA Barnes, DM Becker, LC Becker, K Berger, JC Bis, SM Boekholdt, E Boerwinkle, PS Braund, MJ Brown, MS Burnett, I Buysschaert, , JF Carlquist, L Chen, S Cichon, V Codd, RW Davies, G Dedoussis, A Dehghan, S Demissie, JM Devaney, P Diemert, R Do, A Doering, S Eifert, NE Mokhtari, SG Ellis, R Elosua, JC Engert, SE Epstein, U de Faire, M Fischer, AR Folsom, J Freyer, B Gigante, D Girelli, S Gretarsdottir, V Gudnason, JR Gulcher, E Halperin, N Hammond, SL Hazen, A Hofman, BD Horne, T Illig, C Iribarren, GT Jones, JW Jukema, MA Kaiser, LM Kaplan, JJ Kastelein, KT Khaw, JW Knowles, G Kolovou, A Kong, R Laaksonen, D Lambrechts, K Leander, G Lettre, M Li, W Lieb, C Loley, AJ Lotery, PM Mannucci, S Maouche, N Martinelli, PP McKeown, C Meisinger, T Meitinger, O Melander, PA Merlini, V Mooser, T Morgan, TW Mühleisen, JB Muhlestein, T Münzel, K Musunuru, J Nahrstaedt, CP Nelson, MM Nöthen, O Olivieri, RS Patel, CC Patterson, A Peters, F Peyvandi, L Qu, AA Quyyumi, DJ Rader, LS Rallidis, C Rice, FR Rosendaal, D Rubin, V Salomaa, ML Sampietro, MS Sandhu, E Schadt, A Schäfer, A Schillert, S Schreiber, J Schrezenmeir, SM Schwartz, DS Siscovick, M Sivananthan, S Sivapalaratnam, A Smith, TB Smith, JD Snoep, N Soranzo, JA Spertus, K Stark, K Stirrups, M Stoll, WH Tang, S Tennstedt, G Thorgeirsson, G Thorleifsson, M Tomaszewski, AG Uitterlinden, AM van Rij, BF Voight, NJ Wareham, GA Wells, HE Wichmann, PS Wild, C Willenborg, JC Witteman, BJ Wright, S Ye, T Zeller, A Ziegler, F Cambien, AH Goodall, LA Cupples, T Quertermous, W März, C Hengstenberg, S Blankenberg, WH Ouwehand, AS Hall, P Deloukas, JR Thompson, K Stefansson, R Roberts, U Thorsteinsdottir, CJ O'Donnell, R McPherson, J Erdmann, , NJ Samani
Publication Date: 2011-03-06

Variant appearance in text: rs12286037
PubMed Link: 21378990
Variant Present in the following documents:
  • NIHMS287053-supplement-01.pdf
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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: rs12286037
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
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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: rs12286037
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
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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: rs12286037
PubMed Link: 20691829
Variant Present in the following documents:
  • NIHMS209707-supplement-1.doc
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A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese.

European Journal Of Human Genetics : Ejhg
CQ Jiang, B Liu, BM Cheung, TH Lam, JM Lin, Y Li Jin, XJ Yue, KL Ong, S Tam, KS Wong, B Tomlinson, KS Lam, GN Thomas
Publication Date: 2010-11

Variant appearance in text: rs12286037
PubMed Link: 20571505
Variant Present in the following documents:
  • Main text
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Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.

Plos Genetics
S Suchindran, D Rivedal, JR Guyton, T Milledge, X Gao, A Benjamin, J Rowell, GS Ginsburg, JJ McCarthy
Publication Date: 2010-04-29

Variant appearance in text: rs12286037
PubMed Link: 20442857
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: rs12286037
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: rs12286037
PubMed Link: 20339536
Variant Present in the following documents:
  • pone.0009763.s008.xls
View BVdb publication page



Association between a literature-based genetic risk score and cardiovascular events in women.

Jama
NP Paynter, DI Chasman, G Paré, JE Buring, NR Cook, JP Miletich, PM Ridker
Publication Date: 2010-02-17

Variant appearance in text: rs12286037
PubMed Link: 20159871
Variant Present in the following documents:
  • NIHMS173546-supplement-supplement_1.pdf
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: rs12286037
PubMed Link: 19913121
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xls
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Human Molecular Genetics
RA Hegele, MR Ban, N Hsueh, BA Kennedy, H Cao, GY Zou, S Anand, S Yusuf, MW Huff, J Wang
Publication Date: 2009-11-01

Variant appearance in text: rs12286037
PubMed Link: 19656773
Variant Present in the following documents:
  • Main text
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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: rs12286037
PubMed Link: 19060910
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: rs12286037
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: rs12286037
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
  • NIHMS836655-supplement-Supplementary_Material.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227322.3 c.1179+667G>A - intron_variant - 12/13
ENST00000429220.1 c.958+667G>A - intron_variant - 10/11
ENST00000444935.1 c.1091+1428G>A - intron_variant - 11/12
NM_001317086.2 c.1017+667G>A - intron_variant - 11/12
NM_003904.5 c.1179+667G>A - intron_variant - 12/13