Variant ID: 11-116657561-C-T

NM_003904.3(ZPR1):c.424+124G>A

This variant was identified in 30 publications




Publications:


Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
PT Williams
Publication Date: 2020-03-11

Variant appearance in text: rs3741298
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs3741298
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

The International Journal Of Neuropsychopharmacology
J Alghamdi, S Matou-Nasri, F Alghamdi, S Alghamdi, M Alfadhel, S Padmanabhan
Publication Date: 2018-12-01

Variant appearance in text: rs3741298
PubMed Link: 29986042
Variant Present in the following documents:
  • pyy060_suppl_supplementary_tables.xlsx
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: rs3741298
PubMed Link: 29404214
Variant Present in the following documents:
  • peerj-06-4314-s004.xlsx
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: rs3741298
PubMed Link: 29084231
Variant Present in the following documents:
  • pgen.1007079.s010.xlsx
  • pgen.1007079.s011.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: rs3741298
PubMed Link: 28957414
Variant Present in the following documents:
  • pone.0185083.s004.xlsx
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: rs3741298
PubMed Link: 28426890
Variant Present in the following documents:
  • ddw358_supp.docx
View BVdb publication page



Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

American Journal Of Human Genetics
M Civelek, Y Wu, C Pan, CK Raulerson, A Ko, A He, C Tilford, NK Saleem, A Stančáková, LJ Scott, C Fuchsberger, HM Stringham, AU Jackson, N Narisu, PS Chines, KS Small, J Kuusisto, BW Parks, P Pajukanta, T Kirchgessner, FS Collins, PS Gargalovic, M Boehnke, M Laakso, KL Mohlke, AJ Lusis
Publication Date: 2017-03-02

Variant appearance in text: rs3741298
PubMed Link: 28257690
Variant Present in the following documents:
  • mmc3.xlsx
View BVdb publication page



Genetic determinants of clinical heterogeneity of the coronary artery disease in the population of Hyderabad, India.

Human Genomics
R Pranavchand, AS Kumar, BM Reddy
Publication Date: 2017-03-04

Variant appearance in text: rs3741298
PubMed Link: 28257648
Variant Present in the following documents:
  • 40246_2017_99_MOESM3_ESM.docx
  • aaaaaMain text
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: rs3741298
PubMed Link: 28245265
Variant Present in the following documents:
  • Main text
  • pone.0172880.s002.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: rs3741298
PubMed Link: 27827461
Variant Present in the following documents:
  • srep36830-s1.pdf
View BVdb publication page



Genome-wide compendium and functional assessment of in vivo heart enhancers.

Nature Communications
DE Dickel, I Barozzi, Y Zhu, Y Fukuda-Yuzawa, M Osterwalder, BJ Mannion, D May, CH Spurrell, I Plajzer-Frick, CS Pickle, E Lee, TH Garvin, M Kato, JA Akiyama, V Afzal, AY Lee, DU Gorkin, B Ren, EM Rubin, A Visel, LA Pennacchio
Publication Date: 2016-10-05

Variant appearance in text: rs3741298
PubMed Link: 27703156
Variant Present in the following documents:
  • ncomms12923-s2.xlsx
View BVdb publication page



Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, AE Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, SY Shin, L Southam, M Traglia, F van Dijk, EM van Leeuwen, G Zaza, W Zhang, , N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
Publication Date: 2016-11

Variant appearance in text: rs3741298
PubMed Link: 27668658
Variant Present in the following documents:
  • NIHMS71079-supplement-Supplementary_Data.pdf
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: rs3741298
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: rs3741298
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: rs3741298
PubMed Link: 26780889
Variant Present in the following documents:
  • srep19429-s3.xls
View BVdb publication page



Privacy-preserving genomic testing in the clinic: a model using HIV treatment.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
PJ McLaren, JL Raisaro, M Aouri, M Rotger, E Ayday, I Bartha, MB Delgado, Y Vallet, HF Günthard, M Cavassini, H Furrer, T Doco-Lecompte, C Marzolini, P Schmid, C Di Benedetto, LA Decosterd, J Fellay, JP Hubaux, A Telenti
Publication Date: 2016-08

Variant appearance in text: rs3741298
PubMed Link: 26765343
Variant Present in the following documents:
  • gim2015167x5.doc
  • gim2015167x8.doc
View BVdb publication page



The epigenomic landscape of African rainforest hunter-gatherers and farmers.

Nature Communications
M Fagny, E Patin, JL MacIsaac, M Rotival, T Flutre, MJ Jones, KJ Siddle, H Quach, C Harmant, LM McEwen, A Froment, E Heyer, A Gessain, E Betsem, P Mouguiama-Daouda, JM Hombert, GH Perry, LB Barreiro, MS Kobor, L Quintana-Murci
Publication Date: 2015-11-30

Variant appearance in text: rs3741298
PubMed Link: 26616214
Variant Present in the following documents:
  • ncomms10047-s2.xlsx
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: rs3741298
PubMed Link: 26599207
Variant Present in the following documents:
  • pone.0134649.s015.xlsx
View BVdb publication page



Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease.

Circulation. Cardiovascular Genetics
H Tada, HH Won, O Melander, J Yang, GM Peloso, S Kathiresan
Publication Date: 2014-10

Variant appearance in text: rs3741298
PubMed Link: 25170055
Variant Present in the following documents:
  • Main text
  • NIHMS664832-supplement-supplement.doc
View BVdb publication page



Genetic analysis of long-lived families reveals novel variants influencing high density-lipoprotein cholesterol.

Frontiers In Genetics
MF Feitosa, MK Wojczynski, R Straka, CM Kammerer, JH Lee, AT Kraja, K Christensen, AB Newman, MA Province, IB Borecki
Publication Date: 2014

Variant appearance in text: rs3741298
PubMed Link: 24917880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of systems biology approaches to analysis of genome-wide association studies of myocardial infarction and blood cholesterol in the nurses' health study and health professionals' follow-up study.

Plos One
D Reilly, K Hao, MK Jensen, CJ Girman, EB Rimm
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 24386469
Variant Present in the following documents:
  • Main text
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: rs3741298
PubMed Link: 24023260
Variant Present in the following documents:
  • Main text
View BVdb publication page



GUESS-ing polygenic associations with multiple phenotypes using a GPU-based evolutionary stochastic search algorithm.

Plos Genetics
L Bottolo, M Chadeau-Hyam, DI Hastie, T Zeller, B Liquet, P Newcombe, L Yengo, PS Wild, A Schillert, A Ziegler, SF Nielsen, AS Butterworth, WK Ho, R Castagné, T Munzel, D Tregouet, M Falchi, F Cambien, BG Nordestgaard, F Fumeron, A Tybjærg-Hansen, P Froguel, J Danesh, E Petretto, S Blankenberg, L Tiret, S Richardson
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 23950726
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: rs3741298
PubMed Link: 23940718
Variant Present in the following documents:
  • Main text
  • pone.0071203.s003.xlsx
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: rs3741298
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.s006.pdf
  • pgen.1003379.s009.pdf
View BVdb publication page



Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma.

Genome Medicine
J Raffler, W Römisch-Margl, AK Petersen, P Pagel, F Blöchl, C Hengstenberg, T Illig, C Meisinger, K Stark, HE Wichmann, J Adamski, C Gieger, G Kastenmüller, K Suhre
Publication Date: 2013

Variant appearance in text: rs3741298
PubMed Link: 23414815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

Plos One
AG Comuzzie, SA Cole, SL Laston, VS Voruganti, K Haack, RA Gibbs, NF Butte
Publication Date: 2012

Variant appearance in text: rs3741298
PubMed Link: 23251661
Variant Present in the following documents:
  • Main text
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: rs3741298
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: rs3741298
PubMed Link: 21889769
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227322.3 c.424+124G>A - intron_variant - 3/13
ENST00000425791.1 c.*246+124G>A - intron_variant,NMD_transcript_variant - 3/4
ENST00000429220.1 c.251+124G>A - intron_variant - 2/11
ENST00000431973.1 c.*62+124G>A - intron_variant,NMD_transcript_variant - 3/5
ENST00000444935.1 c.423+124G>A - intron_variant - 3/12
ENST00000498065.1 n.368+124G>A - intron_variant,non_coding_transcript_variant - 1/1
NM_001317086.2 c.262+124G>A - intron_variant - 2/12
NM_003904.5 c.424+124G>A - intron_variant - 3/13