Variant ID: 11-116661826-T-C

NM_001166598.1(APOA5):c.162-43A>G

This variant was identified in 38 publications




Publications:


Quantile-dependent expressivity of postprandial lipemia.

Plos One
PT Williams
Publication Date: 2020

Variant appearance in text: rs2072560
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating the effects of lycopene and green tea on the metabolome of men at risk of prostate cancer: The ProDiet randomised controlled trial.

International Journal Of Cancer
RA Beynon, RC Richmond, DL Santos Ferreira, AR Ness, M May, GD Smith, EE Vincent, C Adams, M Ala-Korpela, P Würtz, S Soidinsalo, C Metcalfe, JL Donovan, AJ Lane, RM Martin, ,
Publication Date: 2019-04-15

Variant appearance in text: rs2072560
PubMed Link: 30325021
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Y Zhou, R Mägi, L Milani, VM Lauschke
Publication Date: 2018-10

Variant appearance in text: rs2072560
PubMed Link: 30076208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence Analysis of APOA5 Among the Kuwaiti Population Identifies Association of rs2072560, rs2266788, and rs662799 With TG and VLDL Levels.

Frontiers In Genetics
AA Jasim, SA Al-Bustan, W Al-Kandari, A Al-Serri, H AlAskar
Publication Date: 2018

Variant appearance in text: rs2072560
PubMed Link: 29686695
Variant Present in the following documents:
  • Main text
  • Table2.pdf
View BVdb publication page



Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).

Scientific Reports
C Gao, KL Tabb, LM Dimitrov, KD Taylor, N Wang, X Guo, J Long, JI Rotter, RM Watanabe, JE Curran, J Blangero, CD Langefeld, DW Bowden, ND Palmer
Publication Date: 2018-04-04

Variant appearance in text: rs2072560
PubMed Link: 29618726
Variant Present in the following documents:
  • 41598_2018_23727_MOESM1_ESM.pdf
  • aaaaaMain text
View BVdb publication page



Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

Peerj
A Andaleon, LS Mogil, HE Wheeler
Publication Date: 2018

Variant appearance in text: rs2072560
PubMed Link: 29404214
Variant Present in the following documents:
  • peerj-06-4314-s004.xlsx
View BVdb publication page



Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Circulation. Cardiovascular Genetics
WC Hsueh, AK Nair, S Kobes, P Chen, HHH Göring, TI Pollin, A Malhotra, WC Knowler, LJ Baier, RL Hanson
Publication Date: 2017-12

Variant appearance in text: rs2072560
PubMed Link: 29237685
Variant Present in the following documents:
  • Main text
  • NIHMS917321-supplement-001809_-_Supplemental_material.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: rs2072560
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.xlsx
View BVdb publication page



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: rs2072560
PubMed Link: 28245265
Variant Present in the following documents:
  • pone.0172880.s002.xlsx
View BVdb publication page



Associations of triglyceride levels with longevity and frailty: A Mendelian randomization analysis.

Scientific Reports
Z Liu, S Burgess, Z Wang, W Deng, X Chu, J Cai, Y Zhu, J Shi, X Xie, Y Wang, L Jin, X Wang
Publication Date: 2017-01-30

Variant appearance in text: rs2072560
PubMed Link: 28134330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Whole Exome Sequencing with Cardiometabolic Traits Using Family-Based Linkage and Association in the IRAS Family Study.

Annals Of Human Genetics
KL Tabb, JN Hellwege, ND Palmer, L Dimitrov, S Sajuthi, KD Taylor, MC Ng, GA Hawkins, YI Chen, WM Brown, D McWilliams, A Williams, C Lorenzo, JM Norris, J Long, JI Rotter, JE Curran, J Blangero, LE Wagenknecht, CD Langefeld, DW Bowden
Publication Date: 2017-03

Variant appearance in text: rs2072560
PubMed Link: 28067407
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: rs2072560
PubMed Link: 27257688
Variant Present in the following documents:
  • pone.0153720.s002.docx
  • pone.0153720.s003.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: rs2072560
PubMed Link: 27227539
Variant Present in the following documents:
  • pgen.1006078.s008.pdf
  • pgen.1006078.s009.pdf
View BVdb publication page



Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lipids In Health And Disease
I Lamiquiz-Moneo, C Blanco-Torrecilla, AM Bea, R Mateo-Gallego, S Pérez-Calahorra, L Baila-Rueda, A Cenarro, F Civeira, I de Castro-Orós
Publication Date: 2016-04-23

Variant appearance in text: APOA5: 162-43A>G
PubMed Link: 27108409
Variant Present in the following documents:
  • Main text
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: rs2072560
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s3.xls
View BVdb publication page



Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men.

Lipids In Health And Disease
KY Son, HY Son, J Chae, J Hwang, S Jang, JM Yun, B Cho, JH Park, JI Kim
Publication Date: 2015-09-13

Variant appearance in text: rs2072560
PubMed Link: 26365620
Variant Present in the following documents:
  • Main text
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: rs2072560
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
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: rs2072560
PubMed Link: 25363704
Variant Present in the following documents:
  • NIHMS640711-supplement-000369_-_Supplemental_Material.pdf
View BVdb publication page



Influences of APOA5 variants on plasma triglyceride levels in Uyghur population.

Plos One
S Li, B Hu, Y Wang, D Wu, L Jin, X Wang
Publication Date: 2014

Variant appearance in text: rs2072560
PubMed Link: 25313938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Triglyceride-raising APOA5 genetic variants are associated with obesity and non-HDL-C in Chinese children and adolescents.

Lipids In Health And Disease
WF Zhu, CL Wang, L Liang, Z Shen, JF Fu, PN Liu, LQ Lv, YM Zhu
Publication Date: 2014-06-05

Variant appearance in text: rs2072560
PubMed Link: 24903888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin resistance: regression and clustering.

Plos One
S Yoon, TL Assimes, T Quertermous, CF Hsiao, LM Chuang, CM Hwu, B Rajaratnam, RA Olshen
Publication Date: 2014

Variant appearance in text: rs2072560
PubMed Link: 24887437
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of apolipoprotein A5 haplotypes on the ratio of triglyceride to high-density lipoprotein cholesterol and the risk for metabolic syndrome in Koreans.

Lipids In Health And Disease
S Cha, H Yu, AY Park, KH Song
Publication Date: 2014-03-12

Variant appearance in text: rs2072560
PubMed Link: 24618354
Variant Present in the following documents:
  • Main text
View BVdb publication page



An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site.

American Journal Of Human Genetics
C Caussy, S Charrière, C Marçais, M Di Filippo, A Sassolas, M Delay, V Euthine, A Jalabert, E Lefai, S Rome, P Moulin
Publication Date: 2014-01-02

Variant appearance in text: rs2072560
PubMed Link: 24387992
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: rs2072560
PubMed Link: 23555974
Variant Present in the following documents:
  • pone.0060454.s001.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: rs2072560
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc4.xls
View BVdb publication page



A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes.

Journal Of Data Mining In Genomics & Proteomics
YC Lee, CQ Lai, JM Ordovas, LD Parnell
Publication Date: 2011-01-01

Variant appearance in text: rs2072560
PubMed Link: 22328972
Variant Present in the following documents:
  • NIHMS285264-supplement-Supplementary_Tables.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: rs2072560
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: rs2072560
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: rs2072560
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned.

Genome Medicine
A Maasz, B Melegh
Publication Date: 2010-09-13

Variant appearance in text: rs2072560
PubMed Link: 20831840
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: rs2072560
PubMed Link: 19913121
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.xls
View BVdb publication page



Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
PP Laurila, J Naukkarinen, K Kristiansson, S Ripatti, T Kauttu, K Silander, V Salomaa, M Perola, PJ Karhunen, PJ Barter, C Ehnholm, L Peltonen
Publication Date: 2010-02

Variant appearance in text: rs2072560
PubMed Link: 19910639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster.

The Embo Journal
T Mishiro, K Ishihara, S Hino, S Tsutsumi, H Aburatani, K Shirahige, Y Kinoshita, M Nakao
Publication Date: 2009-05-06

Variant appearance in text: rs2072560
PubMed Link: 19322193
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: rs2072560
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gender differences in genetic risk profiles for cardiovascular disease.

Plos One
K Silander, M Alanne, K Kristiansson, O Saarela, S Ripatti, K Auro, J Karvanen, S Kulathinal, M Niemelä, P Ellonen, E Vartiainen, P Jousilahti, J Saarela, K Kuulasmaa, A Evans, M Perola, V Salomaa, L Peltonen
Publication Date: 2008

Variant appearance in text: rs2072560
PubMed Link: 18974842
Variant Present in the following documents:
  • Main text
  • pone.0003615.s001.xls
  • pone.0003615.s003.xls
View BVdb publication page



An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.

Journal Of Lipid Research
CR Pullinger, BE Aouizerat, I Movsesyan, V Durlach, EJ Sijbrands, K Nakajima, A Poon, GM Dallinga-Thie, H Hattori, LL Green, PY Kwok, RJ Havel, PH Frost, MJ Malloy, JP Kane
Publication Date: 2008-08

Variant appearance in text: rs2072560
PubMed Link: 18441017
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction of population stratification in large multi-ethnic association studies.

Plos One
D Serre, A Montpetit, G Paré, JC Engert, S Yusuf, B Keavney, TJ Hudson, S Anand
Publication Date: 2008-01-02

Variant appearance in text: rs2072560
PubMed Link: 18196181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

Genomics
M Olivier, X Wang, R Cole, B Gau, J Kim, EM Rubin, LA Pennacchio
Publication Date: 2004-05

Variant appearance in text: rs2072560
PubMed Link: 15081120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227665.4 c.162-43A>G - intron_variant - 2/2
ENST00000433069.1 c.162-43A>G - intron_variant - 3/3
ENST00000542499.1 c.162-43A>G - intron_variant - 3/3
NM_001166598.2 c.162-43A>G - intron_variant - 3/3
NM_001371904.1 c.162-43A>G - intron_variant - 2/2
NM_052968.5 c.162-43A>G - intron_variant - 3/3