Variant ID: 11-116653296-C-G

NM_003904.3(ZPR1):c.1093-336G>C

This variant was identified in 44 publications




Publications:


Genetic polymorphisms of superoxide dismutase 1 are associated with the serum lipid profiles of Han Chinese adults in a sexually dimorphic manner.

Plos One
P Xu, Y Zhu, X Liang, C Gong, Y Xu, C Huang, XL Liu, JC Zhou
Publication Date: 2020

Variant appearance in text: rs2075290
PubMed Link: 32559230
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship of common variants in MPP7, TIMP2 and CASP8 genes with the risk of chronic achilles tendinopathy.

Scientific Reports
X Kang, B Tian, L Zhang, Z Ge, Y Zhao, Y Zhang
Publication Date: 2019-11-26

Variant appearance in text: rs2075290
PubMed Link: 31772230
Variant Present in the following documents:
  • 41598_2019_Article_54097.pdf
View BVdb publication page



Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Molecular Genetics & Genomic Medicine
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2019-09

Variant appearance in text: rs2075290
PubMed Link: 31402603
Variant Present in the following documents:
  • MGG3-7-e925-s002.pdf
View BVdb publication page



Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

International Journal Of Molecular Medicine
Y Yamada, K Kato, M Oguri, H Horibe, T Fujimaki, Y Yasukochi, I Takeuchi, J Sakuma
Publication Date: 2019-01

Variant appearance in text: rs2075290
PubMed Link: 30365130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population.

Physiological Genomics
Y Yasukochi, J Sakuma, I Takeuchi, K Kato, M Oguri, T Fujimaki, H Horibe, Y Yamada
Publication Date: 2018-03-01

Variant appearance in text: rs2075290
PubMed Link: 29341862
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: rs2075290
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
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: rs2075290
PubMed Link: 28957414
Variant Present in the following documents:
  • pone.0185083.s004.xlsx
View BVdb publication page



Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India.

Lipids In Health And Disease
R Pranavchand, BM Reddy
Publication Date: 2017-06-13

Variant appearance in text: rs2075290
PubMed Link: 28610615
Variant Present in the following documents:
  • 12944_2017_507_MOESM4_ESM.docx
  • aaaaaMain 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: rs2075290
PubMed Link: 28548082
Variant Present in the following documents:
  • ncomms15606-s1.pdf
View BVdb publication page



Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.

Oncotarget
Y Yamada, J Sakuma, I Takeuchi, Y Yasukochi, K Kato, M Oguri, T Fujimaki, H Horibe, M Muramatsu, M Sawabe, Y Fujiwara, Y Taniguchi, S Obuchi, H Kawai, S Shinkai, S Mori, T Arai, M Tanaka
Publication Date: 2017-06-13

Variant appearance in text: rs2075290
PubMed Link: 28473662
Variant Present in the following documents:
  • Main text
  • oncotarget-08-38950-s002.docx
  • oncotarget-08-38950-s012.docx
  • oncotarget-08-38950-s013.docx
  • oncotarget-08-38950-s015.docx
  • oncotarget-08-38950-s016.docx
  • oncotarget-08-38950-s018.docx
  • oncotarget-08-38950-s019.docx
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Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

Plos One
EJ Parra, A Mazurek, CR Gignoux, A Sockell, M Agostino, AP Morris, LE Petty, CL Hanis, NJ Cox, A Valladares-Salgado, JE Below, M Cruz
Publication Date: 2017

Variant appearance in text: rs2075290
PubMed Link: 28245265
Variant Present in the following documents:
  • pone.0172880.s002.xlsx
View BVdb publication page



Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

International Journal Of Epidemiology
TV Varga, A Kurbasic, M Aine, P Eriksson, A Ali, G Hindy, S Gustafsson, J Luan, D Shungin, Y Chen, CA Schulz, PM Nilsson, G Hallmans, I Barroso, P Deloukas, C Langenberg, RA Scott, NJ Wareham, L Lind, E Ingelsson, O Melander, M Orho-Melander, F Renström, PW Franks
Publication Date: 2017-08-01

Variant appearance in text: rs2075290
PubMed Link: 27864399
Variant Present in the following documents:
  • dyw245_supplementary_method_2.docx
  • dyw245_supplementary_table_7.xlsx
View BVdb publication page



Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population.

Scientific Reports
E Lin, PH Kuo, YL Liu, AC Yang, CF Kao, SJ Tsai
Publication Date: 2016-11-09

Variant appearance in text: rs2075290
PubMed Link: 27827461
Variant Present in the following documents:
  • srep36830-s1.pdf
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
Publication Date: 2016-09-15

Variant appearance in text: rs2075290
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
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: rs2075290
PubMed Link: 27411854
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

Plos One
P Volkov, AH Olsson, L Gillberg, SW Jørgensen, C Brøns, KF Eriksson, L Groop, PA Jansson, E Nilsson, T Rönn, A Vaag, C Ling
Publication Date: 2016

Variant appearance in text: rs2075290
PubMed Link: 27322064
Variant Present in the following documents:
  • pone.0157776.s004.xlsx
View BVdb publication page



Genetics of Insulin Resistance and the Metabolic Syndrome.

Current Cardiology Reports
AE Brown, M Walker
Publication Date: 2016-08

Variant appearance in text: rs2075290
PubMed Link: 27312935
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: rs2075290
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: rs2075290
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: rs2075290
PubMed Link: 26776183
Variant Present in the following documents:
  • NIHMS742521-supplement-2.pdf
View BVdb publication page



A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS).

Plos One
C Gao, N Wang, X Guo, JT Ziegler, KD Taylor, AH Xiang, Y Hai, SJ Kridel, JL Nadler, F Kandeel, LJ Raffel, YD Chen, JM Norris, JI Rotter, RM Watanabe, LE Wagenknecht, DW Bowden, EK Speliotes, MO Goodarzi, CD Langefeld, ND Palmer
Publication Date: 2015

Variant appearance in text: rs2075290
PubMed Link: 26599207
Variant Present in the following documents:
  • pone.0134649.s015.xlsx
View BVdb publication page



Genome-wide association study of metabolic syndrome in koreans.

Genomics & Informatics
SW Jeong, M Chung, SJ Park, SB Cho, KW Hong
Publication Date: 2014-12

Variant appearance in text: rs2075290
PubMed Link: 25705157
Variant Present in the following documents:
  • gni-12-187-s001.pdf
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: rs2075290
PubMed Link: 25664523
Variant Present in the following documents:
  • aging-07-0123-s001.docx
View BVdb publication page



A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Nature Communications
NJ Timpson, K Walter, JL Min, I Tachmazidou, G Malerba, SY Shin, L Chen, M Futema, L Southam, V Iotchkova, M Cocca, J Huang, Y Memari, S McCarthy, P Danecek, D Muddyman, M Mangino, C Menni, JR Perry, SM Ring, A Gaye, G Dedoussis, AE Farmaki, P Burton, PJ Talmud, G Gambaro, TD Spector, GD Smith, R Durbin, JB Richards, SE Humphries, E Zeggini, N Soranzo, ,
Publication Date: 2014-09-16

Variant appearance in text: rs2075290
PubMed Link: 25225788
Variant Present in the following documents:
  • Main text
  • ncomms5871-s1.pdf
View BVdb publication page



Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.

Scientific Reports
LH Aung, RX Yin, JZ Wu, DF Wu, W Wang, H Li
Publication Date: 2014-07-03

Variant appearance in text: rs2075290
PubMed Link: 24989072
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
LH Aung, RX Yin, DF Wu, W Wang, CW Liu, SL Pan
Publication Date: 2014-07

Variant appearance in text: rs2075290
PubMed Link: 24780069
Variant Present in the following documents:
  • Main text
  • jcmm0018-1417-SD1.doc
View BVdb publication page



Sex-specific association of the zinc finger protein 259 rs2075290 polymorphism and serum lipid levels.

International Journal Of Medical Sciences
LH Aung, RX Yin, DF Wu, W Wang, JZ Wu, CW Liu
Publication Date: 2014

Variant appearance in text: rs2075290
PubMed Link: 24688311
Variant Present in the following documents:
  • Main text
View BVdb publication page



Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology
RC Hoogeveen, JW Gaubatz, W Sun, RC Dodge, JR Crosby, J Jiang, D Couper, SS Virani, S Kathiresan, E Boerwinkle, CM Ballantyne
Publication Date: 2014-05

Variant appearance in text: rs2075290
PubMed Link: 24558110
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: rs2075290
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
View BVdb publication page



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

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

Variant appearance in text: rs2075290
PubMed Link: 24206787
Variant Present in the following documents:
  • 1755-8794-6-50-S2.docx
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: rs2075290
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mixed modeling of meta-analysis P-values (MixMAP) suggests multiple novel gene loci for low density lipoprotein cholesterol.

Plos One
AS Foulkes, GJ Matthews, U Das, JF Ferguson, R Lin, MP Reilly
Publication Date: 2013

Variant appearance in text: rs2075290
PubMed Link: 23405096
Variant Present in the following documents:
  • Main text
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: rs2075290
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: rs2075290
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: rs2075290
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
  • mmc7.xls
View BVdb publication page



Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader
Publication Date: 2012

Variant appearance in text: rs2075290
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.s004.doc
  • pone.0036473.s009.doc
  • pone.0036473.s013.doc
View BVdb publication page



Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

Circulation. Cardiovascular Genetics
K Kristiansson, M Perola, E Tikkanen, J Kettunen, I Surakka, AS Havulinna, A Stancáková, C Barnes, E Widen, E Kajantie, JG Eriksson, J Viikari, M Kähönen, T Lehtimäki, OT Raitakari, AL Hartikainen, A Ruokonen, A Pouta, A Jula, AJ Kangas, P Soininen, M Ala-Korpela, S Männistö, P Jousilahti, LL Bonnycastle, MR Järvelin, J Kuusisto, FS Collins, M Laakso, ME Hurles, A Palotie, L Peltonen, S Ripatti, V Salomaa
Publication Date: 2012-04-01

Variant appearance in text: rs2075290
PubMed Link: 22399527
Variant Present in the following documents:
  • NIHMS47601-supplement-supp_data.pdf
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: rs2075290
PubMed Link: 22286219
Variant Present in the following documents:
  • NIHMS444574-supplement-supplementary_table_2.xlsx
View BVdb publication page



Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia.

Atherosclerosis
A Brautbar, D Covarrubias, J Belmont, F Lara-Garduno, SS Virani, PH Jones, SM Leal, CM Ballantyne
Publication Date: 2011-12

Variant appearance in text: rs2075290
PubMed Link: 21889769
Variant Present in the following documents:
  • Main text
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: rs2075290
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
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: rs2075290
PubMed Link: 21386085
Variant Present in the following documents:
  • Main text
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: rs2075290
PubMed Link: 21303902
Variant Present in the following documents:
  • NIHMS280051-supplement-1.pdf
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: rs2075290
PubMed Link: 20339536
Variant Present in the following documents:
  • pone.0009763.s008.xls
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: rs2075290
PubMed Link: 19913121
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227322.3 c.1093-336G>C - intron_variant - 11/13
ENST00000429220.1 c.872-336G>C - intron_variant - 9/11
ENST00000444935.1 c.1091+339G>C - intron_variant - 11/12
ENST00000449430.1 c.*296-336G>C - intron_variant,NMD_transcript_variant - 7/7
NM_001317086.2 c.931-336G>C - intron_variant - 10/12
NM_003904.5 c.1093-336G>C - intron_variant - 11/13