Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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: rs3741298

PubMed Link: 28245265

Variant Present in the following documents:

• Main text
• pone.0172880.s002.xlsx

View BVdb publication page

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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