Publications:

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A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature Communications

A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard

Publication Date: 2019-10-21

Variant appearance in text: rs1748195

PubMed Link: 31636271

Variant Present in the following documents:

• 41467_2019_12703_MOESM11_ESM.xlsx
• 41467_2019_12703_MOESM3_ESM.xlsx
• 41467_2019_12703_MOESM4_ESM.xlsx
• 41467_2019_12703_MOESM6_ESM.xlsx
• 41467_2019_12703_MOESM8_ESM.xlsx

View BVdb publication page

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Mendelian randomization analysis rules out disylipidaemia as colorectal cancer cause.

Scientific Reports

G Ibáñez-Sanz, A Díez-Villanueva, M Riera-Ponsati, T Fernández-Villa, P Fernández Navarro, M Bustamante, J Llorca, P Amiano, N Ascunce, G Fernández-Tardón, I Salcedo Bellido, D Salas, R Capelo Álvarez, M Crous-Bou, L Ortega-Valín, B Pérez-Gómez, G Castaño-Vinyals, C Palazuelos, JM Altzibar, E Ardanaz, A Tardón, JJ Jiménez Moleón, V Olmos Juste, N Aragonés, M Pollán, M Kogevinas, V Moreno

Publication Date: 2019-09-16

Variant appearance in text: rs1748195

PubMed Link: 31527690

Variant Present in the following documents:

• 41598_2019_49880_MOESM1_ESM.doc
• aaaaaMain text

View BVdb publication page

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The association between genetic variants of angiopoietin-like 3 and risk of diabetes mellitus is modified by dietary factors in Koreans.

Scientific Reports

CY Park, J Moon, G Jo, J Lee, OY Kim, H Oh, H Lim, MJ Shin

Publication Date: 2019-01-25

Variant appearance in text: rs1748195

PubMed Link: 30683883

Variant Present in the following documents:

• Main text

View BVdb publication page

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Direct and indirect genetic effects on triglycerides through omics and correlated phenotypes.

Bmc Proceedings

AE Justice, AG Howard, L Fernández-Rhodes, M Graff, R Tao, KE North

Publication Date: 2018

Variant appearance in text: rs1748195

PubMed Link: 30275878

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determinants of IBD Heritability: Genes, Bugs, and More.

Inflammatory Bowel Diseases

W Turpin, A Goethel, L Bedrani, K Croitoru Mdcm

Publication Date: 2018-05-18

Variant appearance in text: rs1748195

PubMed Link: 29701818

Variant Present in the following documents:

• Main text

View BVdb publication page

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DOCK7-ANGPTL3 SNPs and their haplotypes with serum lipid levels and the risk of coronary artery disease and ischemic stroke.

Lipids In Health And Disease

WJ Li, RX Yin, XL Cao, WX Chen, F Huang, JZ Wu

Publication Date: 2018-02-17

Variant appearance in text: rs1748195

PubMed Link: 29454388

Variant Present in the following documents:

• Main text

View BVdb publication page

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New insights into ANGPLT3 in controlling lipoprotein metabolism and risk of cardiovascular diseases.

Lipids In Health And Disease

X Su, DQ Peng

Publication Date: 2018-01-15

Variant appearance in text: rs1748195

PubMed Link: 29334984

Variant Present in the following documents:

• Main text

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: rs1748195

PubMed Link: 29084231

Variant Present in the following documents:

• pgen.1007079.s010.xlsx

View BVdb publication page

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Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort.

Clinical And Translational Gastroenterology

OM Damas, L Gomez, MA Quintero, E Rampersaud, S Slifer, GW Beecham, DH Kerman, AR Deshpande, DA Sussman, MT Abreu, JL McCauley

Publication Date: 2017-04-13

Variant appearance in text: rs1748195

PubMed Link: 28406493

Variant Present in the following documents:

• ctg201713x2.xls

View BVdb publication page

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Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.

Cell Stem Cell

EE Pashos, Y Park, X Wang, A Raghavan, W Yang, D Abbey, DT Peters, J Arbelaez, M Hernandez, N Kuperwasser, W Li, Z Lian, Y Liu, W Lv, SL Lytle-Gabbin, DH Marchadier, P Rogov, J Shi, KJ Slovik, IM Stylianou, L Wang, R Yan, X Zhang, S Kathiresan, SA Duncan, TS Mikkelsen, EE Morrisey, DJ Rader, CD Brown, K Musunuru

Publication Date: 2017-04-06

Variant appearance in text: rs1748195

PubMed Link: 28388432

Variant Present in the following documents:

• NIHMS863825-supplement-10.xlsx

View BVdb publication page

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Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

Journal Of Cellular And Molecular Medicine

Y Zhu, D Zhang, D Zhou, Z Li, Z Li, L Fang, M Yang, Z Shan, H Li, J Chen, X Zhou, W Ye, S Yu, H Li, L Cai, C Liu, J Zhang, L Wang, Y Lai, L Ruan, Z Sun, S Zhang, H Wang, Y Liu, Y Xu, J Ling, C Xu, Y Zhang, D Lv, Z Yuan, J Zhang, Y Zhang, Y Shi, M Lai

Publication Date: 2017-06

Variant appearance in text: rs1748195

PubMed Link: 28371326

Variant Present in the following documents:

• JCMM-21-1106-s002.xlsx

View BVdb publication page

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Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA).

Human Genetics

Z Wang, A Manichukal, DC Goff, S Mora, JM Ordovas, NM Pajewski, WS Post, JI Rotter, MM Sale, SA Santorico, D Siscovick, MY Tsai, DK Arnett, S Rich, AC Frazier-Wood

Publication Date: 2017-06

Variant appearance in text: rs1748195

PubMed Link: 28352986

Variant Present in the following documents:

• 439_2017_1782_MOESM1_ESM.docx

View BVdb publication page

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LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn's disease patients.

Jci Insight

TC Liu, T Naito, Z Liu, KL VanDussen, T Haritunians, D Li, K Endo, Y Kawai, M Nagasaki, Y Kinouchi, DP McGovern, T Shimosegawa, Y Kakuta, TS Stappenbeck

Publication Date: 2017-03-23

Variant appearance in text: rs1748195

PubMed Link: 28352666

Variant Present in the following documents:

• jciinsight-2-91917-s001.pdf

View BVdb publication page

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Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine

R Nagy, TS Boutin, J Marten, JE Huffman, SM Kerr, A Campbell, L Evenden, J Gibson, C Amador, DM Howard, P Navarro, A Morris, IJ Deary, LJ Hocking, S Padmanabhan, BH Smith, P Joshi, JF Wilson, ND Hastie, AF Wright, AM McIntosh, DJ Porteous, CS Haley, V Vitart, C Hayward

Publication Date: 2017-03-07

Variant appearance in text: rs1748195

PubMed Link: 28270201

Variant Present in the following documents:

• 13073_2017_414_MOESM11_ESM.xlsx

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: rs1748195

PubMed Link: 28257690

Variant Present in the following documents:

• mmc3.xlsx

View BVdb publication page

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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

Nature Genetics

KM de Lange, L Moutsianas, JC Lee, CA Lamb, Y Luo, NA Kennedy, L Jostins, DL Rice, J Gutierrez-Achury, SG Ji, G Heap, ER Nimmo, C Edwards, P Henderson, C Mowat, J Sanderson, J Satsangi, A Simmons, DC Wilson, M Tremelling, A Hart, CG Mathew, WG Newman, M Parkes, CW Lees, H Uhlig, C Hawkey, NJ Prescott, T Ahmad, JC Mansfield, CA Anderson, JC Barrett

Publication Date: 2017-02

Variant appearance in text: rs1748195

PubMed Link: 28067908

Variant Present in the following documents:

• NIHMS70681-supplement-Supplementary_Table_2.xlsx

View BVdb publication page

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Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.

Genome Medicine

C Blauwendraat, M Francescatto, JR Gibbs, IE Jansen, J Simón-Sánchez, DG Hernandez, AA Dillman, AB Singleton, MR Cookson, P Rizzu, P Heutink

Publication Date: 2016-06-10

Variant appearance in text: rs1748195

PubMed Link: 27287230

Variant Present in the following documents:

• 13073_2016_320_MOESM8_ESM.xlsx

View BVdb publication page

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Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology

BD Ye, DP McGovern

Publication Date: 2016-10

Variant appearance in text: rs1748195

PubMed Link: 27156530

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1748195

PubMed Link: 26776183

Variant Present in the following documents:

• NIHMS742521-supplement-2.pdf

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: rs1748195

PubMed Link: 26765343

Variant Present in the following documents:

• gim2015167x5.doc
• gim2015167x8.doc

View BVdb publication page

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Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies.

Plos One

AM Kulminski, I Culminskaya, KG Arbeev, L Arbeeva, SV Ukraintseva, E Stallard, D Wu, AI Yashin

Publication Date: 2015

Variant appearance in text: rs1748195

PubMed Link: 26295473

Variant Present in the following documents:

• pone.0136319.s003.pdf

View BVdb publication page

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Genetics of Inflammatory Bowel Diseases.

Gastroenterology

DP McGovern, S Kugathasan, JH Cho

Publication Date: 2015-10

Variant appearance in text: rs1748195

PubMed Link: 26255561

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Nature Genetics

JZ Liu, S van Sommeren, H Huang, SC Ng, R Alberts, A Takahashi, S Ripke, JC Lee, L Jostins, T Shah, S Abedian, JH Cheon, J Cho, NE Dayani, L Franke, Y Fuyuno, A Hart, RC Juyal, G Juyal, WH Kim, AP Morris, H Poustchi, WG Newman, V Midha, TR Orchard, H Vahedi, A Sood, JY Sung, R Malekzadeh, HJ Westra, K Yamazaki, SK Yang, , , JC Barrett, BZ Alizadeh, M Parkes, T Bk, MJ Daly, M Kubo, CA Anderson, RK Weersma

Publication Date: 2015-09

Variant appearance in text: rs1748195

PubMed Link: 26192919

Variant Present in the following documents:

• Main text
• NIHMS68163-supplement-Supplementary_Figure_7.pdf
• NIHMS68163-supplement-Supplementary_Table_10.pdf
• NIHMS68163-supplement-Supplementary_Table_2.pdf
• NIHMS68163-supplement-Supplementary_Table_4.pdf
• NIHMS68163-supplement-Supplementary_Table_5.pdf
• NIHMS68163-supplement-Supplementary_Table_7.pdf
• NIHMS68163-supplement-Supplementary_Table_8.pdf

View BVdb publication page

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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: rs1748195

PubMed Link: 26130488

Variant Present in the following documents:

• ejhg2015150x4.xls

View BVdb publication page

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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: rs1748195

PubMed Link: 26096528

Variant Present in the following documents:

• NIHMS1043972-supplement-Supplemental.pdf

View BVdb publication page

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A systematic heritability analysis of the human whole blood transcriptome.

Human Genetics

T Huan, C Liu, R Joehanes, X Zhang, BH Chen, AD Johnson, C Yao, P Courchesne, CJ O'Donnell, PJ Munson, D Levy

Publication Date: 2015-03

Variant appearance in text: rs1748195

PubMed Link: 25585846

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1748195

PubMed Link: 25474351

Variant Present in the following documents:

• pgen.1004678.s007.xlsx
• pgen.1004678.s008.xlsx
• pgen.1004678.s010.xlsx
• pgen.1004678.s011.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: rs1748195

PubMed Link: 25170055

Variant Present in the following documents:

• NIHMS664832-supplement-supplement.doc

View BVdb publication page

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Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans.

Bmc Complementary And Alternative Medicine

SK Chung, H Yu, AY Park, JY Kim, S Cha

Publication Date: 2014-07-09

Variant appearance in text: rs1748195

PubMed Link: 25005712

Variant Present in the following documents:

• 1472-6882-14-230-S1.xls
• aaaaaMain text

View BVdb publication page

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Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants.

Plos One

M Narahara, K Higasa, S Nakamura, Y Tabara, T Kawaguchi, M Ishii, K Matsubara, F Matsuda, R Yamada

Publication Date: 2014

Variant appearance in text: rs1748195

PubMed Link: 24956270

Variant Present in the following documents:

• pone.0100924.s011.xlsx

View BVdb publication page

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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: rs1748195

PubMed Link: 24622110

Variant Present in the following documents:

• NIHMS575195-supplement-000173_-_Supplemental_Material.pdf

View BVdb publication page

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Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

American Journal Of Human Genetics

EA Rosenthal, J Ranchalis, DR Crosslin, A Burt, JD Brunzell, AG Motulsky, DA Nickerson, , EM Wijsman, GP Jarvik

Publication Date: 2013-12-05

Variant appearance in text: rs1748195

PubMed Link: 24268658

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1748195

PubMed Link: 24256507

Variant Present in the following documents:

• 1471-2350-14-120-S1.doc

View BVdb publication page

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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: rs1748195

PubMed Link: 24135527

Variant Present in the following documents:

• NIHMS527173-supplement-01.pdf

View BVdb publication page

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No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population.

Human Genetics

L Dumitrescu, CL Carty, N Franceschini, LA Hindorff, SA Cole, P Bůžková, FR Schumacher, CB Eaton, RJ Goodloe, DJ Duggan, J Haessler, B Cochran, BE Henderson, I Cheng, KC Johnson, CS Carlson, SA Love, K Brown-Gentry, AQ Nato, M Quibrera, RV Shohet, JL Ambite, LR Wilkens, L Le Marchand, CA Haiman, S Buyske, C Kooperberg, KE North, M Fornage, DC Crawford

Publication Date: 2013-12

Variant appearance in text: rs1748195

PubMed Link: 24100633

Variant Present in the following documents:

• NIHMS530028-supplement-439_2013_1375_MOESM1_ESM.docx

View BVdb publication page

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Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study.

Plos Biology

CS Carlson, TC Matise, KE North, CA Haiman, MD Fesinmeyer, S Buyske, FR Schumacher, U Peters, N Franceschini, MD Ritchie, DJ Duggan, KL Spencer, L Dumitrescu, CB Eaton, F Thomas, A Young, C Carty, G Heiss, L Le Marchand, DC Crawford, LA Hindorff, CL Kooperberg,

Publication Date: 2013-09

Variant appearance in text: rs1748195

PubMed Link: 24068893

Variant Present in the following documents:

• pbio.1001661.s003.xlsx
• pbio.1001661.s004.xlsx

View BVdb publication page

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Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Bmc Genetics

KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,

Publication Date: 2013-05-01

Variant appearance in text: rs1748195

PubMed Link: 23634756

Variant Present in the following documents:

• 1471-2156-14-33-S1.pdf

View BVdb publication page

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Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

Plos Genetics

SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie

Publication Date: 2013

Variant appearance in text: rs1748195

PubMed Link: 23382687

Variant Present in the following documents:

• Main text
• pgen.1003087.s001.xlsx

View BVdb publication page

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Association of cardiovascular and metabolic disease genes with psoriasis.

The Journal Of Investigative Dermatology

Y Lu, H Chen, P Nikamo, H Qi Low, C Helms, M Seielstad, J Liu, AM Bowcock, M Stahle, W Liao

Publication Date: 2013-03

Variant appearance in text: rs1748195

PubMed Link: 23190900

Variant Present in the following documents:

• NIHMS404713-supplement-01.pdf

View BVdb publication page

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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: rs1748195

PubMed Link: 23101478

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1748195

PubMed Link: 23063622

Variant Present in the following documents:

• mmc7.xls

View BVdb publication page

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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: rs1748195

PubMed Link: 23050023

Variant Present in the following documents:

• pone.0046385.s002.xls

View BVdb publication page

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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: rs1748195

PubMed Link: 23036011

Variant Present in the following documents:

• 1471-2350-13-94-S1.pdf

View BVdb publication page

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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: rs1748195

PubMed Link: 22433082

Variant Present in the following documents:

• mmc1.xls

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Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics

CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg

Publication Date: 2012-04-01

Variant appearance in text: rs1748195

PubMed Link: 22403240

Variant Present in the following documents:

• NIHMS369440-supplement-01.pdf

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: rs1748195

PubMed Link: 22286219

Variant Present in the following documents:

• NIHMS444574-supplement-supplementary_table_2.xlsx

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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: rs1748195

PubMed Link: 21860704

Variant Present in the following documents:

• Main text

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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: rs1748195

PubMed Link: 21851846

Variant Present in the following documents:

• Main text

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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: rs1748195

PubMed Link: 21829388

Variant Present in the following documents:

• pgen.1002197.s012.xls

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Evidence for age as a modifier of genetic associations for lipid levels.

Annals Of Human Genetics

L Dumitrescu, K Brown-Gentry, R Goodloe, K Glenn, W Yang, N Kornegay, CH Pui, MV Relling, DC Crawford

Publication Date: 2011-09

Variant appearance in text: rs1748195

PubMed Link: 21777205

Variant Present in the following documents:

• NIHMS304382-supplement-Supp_Table_S1-S4.doc

View BVdb publication page

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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics

L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford

Publication Date: 2011-06

Variant appearance in text: rs1748195

PubMed Link: 21738485

Variant Present in the following documents:

• Main text
• pgen.1002138.s015.doc

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Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study.

The Journal Of Infectious Diseases

R Lubomirov, S Colombo, J di Iulio, B Ledergerber, R Martinez, M Cavassini, B Hirschel, E Bernasconi, L Elzi, P Vernazza, H Furrer, HF Günthard, A Telenti,

Publication Date: 2011-01-15

Variant appearance in text: rs1748195

PubMed Link: 21288825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals.

American Journal Of Human Genetics

J Ding, JE Gudjonsson, L Liang, PE Stuart, Y Li, W Chen, M Weichenthal, E Ellinghaus, A Franke, W Cookson, RP Nair, JT Elder, GR Abecasis

Publication Date: 2010-12-10

Variant appearance in text: rs1748195

PubMed Link: 21129726

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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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: rs1748195

PubMed Link: 20406164

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Plos Genetics

AC Nica, SB Montgomery, AS Dimas, BE Stranger, C Beazley, I Barroso, ET Dermitzakis

Publication Date: 2010-04-01

Variant appearance in text: rs1748195

PubMed Link: 20369022

Variant Present in the following documents:

• Main text
• pgen.1000895.s001.xls
• pgen.1000895.s002.xls

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Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

Circulation. Cardiovascular Genetics

ME Keebler, CL Sanders, A Surti, C Guiducci, NP Burtt, S Kathiresan

Publication Date: 2009-06

Variant appearance in text: rs1748195

PubMed Link: 20031591

Variant Present in the following documents:

• Main text

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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: rs1748195

PubMed Link: 19656773

Variant Present in the following documents:

• Main text

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Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

European Heart Journal

A Murray, C Cluett, S Bandinelli, AM Corsi, L Ferrucci, J Guralnik, A Singleton, T Frayling, D Melzer

Publication Date: 2009-07

Variant appearance in text: rs1748195

PubMed Link: 19435741

Variant Present in the following documents:

• Main text

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Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

Journal Of Lipid Research

MB Lanktree, SS Anand, S Yusuf, RA Hegele,

Publication Date: 2009-07

Variant appearance in text: rs1748195

PubMed Link: 19299407

Variant Present in the following documents:

• Main text

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Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

American Journal Of Human Genetics

L Ferrucci, JR Perry, A Matteini, M Perola, T Tanaka, K Silander, N Rice, D Melzer, A Murray, C Cluett, LP Fried, D Albanes, AM Corsi, A Cherubini, J Guralnik, S Bandinelli, A Singleton, J Virtamo, J Walston, RD Semba, TM Frayling

Publication Date: 2009-02

Variant appearance in text: rs1748195

PubMed Link: 19185284

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: rs1748195

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: rs1748195

PubMed Link: 18852197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs1748195

PubMed Link: 18193043

Variant Present in the following documents:

• Main text
• NIHMS836655-supplement-Supplementary_Material.pdf

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000251157.5	c.1801-668G>A	-	intron_variant	-	15/48
ENST00000340370.5	c.1801-668G>A	-	intron_variant	-	15/48
NM_001271999.1	c.1801-668G>A	-	intron_variant	-	15/48
NM_001272000.1	c.1801-668G>A	-	intron_variant	-	15/48
NM_001272001.1	c.1801-668G>A	-	intron_variant	-	15/47
NM_001330614.1	c.1801-668G>A	-	intron_variant	-	15/49
NM_001367561.1	c.1801-668G>A	-	intron_variant	-	15/49
NM_033407.3	c.1801-668G>A	-	intron_variant	-	15/48