Publications:

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Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.

Genes

A Huerta-Chagoya, H Moreno-Macías, M Sevilla-González, R Rodríguez-Guillén, ML Ordóñez-Sánchez, D Gómez-Velasco, L Muñóz-Hernández, Y Segura-Kato, O Arellano-Campos, I Cruz-Bautista, CA Aguilar-Salinas, T Tusié-Luna

Publication Date: 2020-01-20

Variant appearance in text: rs2228671

PubMed Link: 31968565

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics

R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta

Publication Date: 2019

Variant appearance in text: rs2228671

PubMed Link: 31850058

Variant Present in the following documents:

• Table_15.xlsx

View BVdb publication page

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Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports

M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws

Publication Date: 2019-11-19

Variant appearance in text: rs2228671

PubMed Link: 31745181

Variant Present in the following documents:

• 41598_2019_53604_MOESM1_ESM.xlsx
• 41598_2019_53604_MOESM2_ESM.xlsx

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

C Zhang, Y Gao, Z Ning, Y Lu, X Zhang, J Liu, B Xie, Z Xue, X Wang, K Yuan, X Ge, Y Pan, C Liu, L Tian, Y Wang, D Lu, BP Hoh, S Xu

Publication Date: 2019-10-22

Variant appearance in text: rs2228671

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM4_ESM.xlsx

View BVdb publication page

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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: rs2228671

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_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: rs2228671

PubMed Link: 31527690

Variant Present in the following documents:

• 41598_2019_49880_MOESM1_ESM.doc

View BVdb publication page

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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: rs2228671

PubMed Link: 31367044

Variant Present in the following documents:

• EMS83607-supplement-Supplementary_Tables.xlsx

View BVdb publication page

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Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes.

Human Heredity

Y Yu, L Xia, S Lee, X Zhou, HM Stringham, M Boehnke, B Mukherjee

Publication Date: 2018

Variant appearance in text: rs2228671

PubMed Link: 31132756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of disease-associated loci using machine learning for genotype and network data integration.

Bioinformatics (Oxford, England)

LG Leal, A David, MR Jarvelin, S Sebert, M Männikkö, V Karhunen, E Seaby, C Hoggart, MJE Sternberg

Publication Date: 2019-12-15

Variant appearance in text: rs2228671

PubMed Link: 31070705

Variant Present in the following documents:

• Main text

View BVdb publication page

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A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine

MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo

Publication Date: 2019

Variant appearance in text: rs2228671

PubMed Link: 30774981

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early Subclinical Atherosclerosis in Gestational Diabetes: The Predictive Role of Routine Biomarkers and Nutrigenetic Variants.

Journal Of Diabetes Research

M Franzago, F Fraticelli, M Di Nicola, F Bianco, D Marchetti, C Celentano, M Liberati, R De Caterina, L Stuppia, E Vitacolonna

Publication Date: 2018

Variant appearance in text: rs2228671

PubMed Link: 30671483

Variant Present in the following documents:

• Main text

View BVdb publication page

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APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology

R Harada, M Kimura, Y Sato, T Taniguchi, T Tomonari, T Tanaka, H Tanaka, N Muguruma, H Shinomiya, H Honda, I Imoto, M Sogabe, T Okahisa, T Takayama

Publication Date: 2018-01-30

Variant appearance in text: rs2228671

PubMed Link: 29382324

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: rs2228671

PubMed Link: 29084231

Variant Present in the following documents:

• pgen.1007079.s010.xlsx

View BVdb publication page

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Circulating Cholesterol Levels May Link to the Factors Influencing Parkinson's Risk.

Frontiers In Neurology

L Zhang, X Wang, M Wang, NW Sterling, G Du, MM Lewis, T Yao, RB Mailman, R Li, X Huang

Publication Date: 2017

Variant appearance in text: rs2228671

PubMed Link: 29021777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Iterative hard thresholding for model selection in genome-wide association studies.

Genetic Epidemiology

KL Keys, GK Chen, K Lange

Publication Date: 2017-12

Variant appearance in text: rs2228671

PubMed Link: 28875524

Variant Present in the following documents:

• NIHMS898446-supplement-Supp_TableS1-2.docx

View BVdb publication page

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The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.

Lipids In Health And Disease

YH Yue, LY Liu, L Hu, YM Li, JP Mao, XY Yang, NM Dila

Publication Date: 2017-06-17

Variant appearance in text: rs2228671

PubMed Link: 28623937

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease

CS Paththinige, ND Sirisena, V Dissanayake

Publication Date: 2017-06-02

Variant appearance in text: rs2228671

PubMed Link: 28577571

Variant Present in the following documents:

• 12944_2017_488_MOESM1_ESM.xlsx
• aaaaaMain text

View BVdb publication page

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Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes.

Cell Reports

M Parisien, S Khoury, AJ Chabot-Doré, SG Sotocinal, GD Slade, SB Smith, RB Fillingim, R Ohrbach, JD Greenspan, W Maixner, JS Mogil, I Belfer, L Diatchenko

Publication Date: 2017-05-30

Variant appearance in text: rs2228671

PubMed Link: 28564610

Variant Present in the following documents:

• NIHMS877337-supplement-5.xlsx

View BVdb publication page

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)

M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen

Publication Date: 2017-04-24

Variant appearance in text: rs2228671

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

View BVdb publication page

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GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke.

Stroke

I Fernández-Cadenas, M Mendióroz, D Giralt, C Nafria, E Garcia, C Carrera, C Gallego-Fabrega, S Domingues-Montanari, P Delgado, M Ribó, M Castellanos, S Martínez, M Freijo, J Jiménez-Conde, M Rubiera, J Alvarez-Sabín, CA Molina, MA Font, M Grau Olivares, E Palomeras, N Perez de la Ossa, M Martinez-Zabaleta, J Masjuan, F Moniche, D Canovas, C Piñana, F Purroy, D Cocho, I Navas, C Tejero, N Aymerich, N Cullell, E Muiño, J Serena, F Rubio, A Davalos, J Roquer, JF Arenillas, J Martí-Fábregas, K Keene, WM Chen, B Worrall, M Sale, A Arboix, J Krupinski, J Montaner,

Publication Date: 2017-05

Variant appearance in text: rs2228671

PubMed Link: 28411264

Variant Present in the following documents:

• NIHMS861713-supplement-Supplemental_Material.pdf

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: rs2228671

PubMed Link: 28352986

Variant Present in the following documents:

• 439_2017_1782_MOESM1_ESM.docx

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: rs2228671

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: rs2228671

PubMed Link: 28257690

Variant Present in the following documents:

• mmc3.xlsx

View BVdb publication page

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Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected Women.

Journal Of Diabetes Research

M Franzago, F Fraticelli, A Nicolucci, C Celentano, M Liberati, L Stuppia, E Vitacolonna

Publication Date: 2017

Variant appearance in text: rs2228671

PubMed Link: 28133617

Variant Present in the following documents:

• 4612623.f1.pdf
• aaaaaMain text

View BVdb publication page

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

International Journal Of Epidemiology

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

Publication Date: 2017-08-01

Variant appearance in text: rs2228671

PubMed Link: 27864399

Variant Present in the following documents:

• dyw245_supplementary_method_2.docx
• dyw245_supplementary_table_6.xlsx

View BVdb publication page

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Coronary Artery Calcification and Rheumatoid Arthritis: Lack of Relationship to Risk Alleles for Coronary Artery Disease in the General Population.

Arthritis & Rheumatology (Hoboken, N.J.)

I Ferraz-Amaro, R Winchester, PK Gregersen, RJ Reynolds, MC Wasko, A Oeser, CP Chung, CM Stein, JT Giles, JM Bathon

Publication Date: 2017-03

Variant appearance in text: rs2228671

PubMed Link: 27696788

Variant Present in the following documents:

• Main text
• NIHMS880290-supplement-Supp_TableS1.docx

View BVdb publication page

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The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular Genetics And Metabolism

RL Hanson, F Leti, D Tsinajinnie, S Kobes, S Puppala, JE Curran, L Almasy, DM Lehman, J Blangero, R Duggirala, JK DiStefano

Publication Date: 2016-06

Variant appearance in text: rs2228671

PubMed Link: 27117576

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries

Publication Date: 2016-03

Variant appearance in text: rs2228671

PubMed Link: 26892515

Variant Present in the following documents:

• mmc1.doc

View BVdb publication page

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LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One

E Ochoa, M Iriondo, C Manzano, A Fullaondo, I Villar, G Ruiz-Irastorza, AM Zubiaga, A Estonba

Publication Date: 2016

Variant appearance in text: LDLR: Cys27Cys; rs2228671

PubMed Link: 26820623

Variant Present in the following documents:

• pone.0146990.s002.doc

View BVdb publication page

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The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.

Bmc Cardiovascular Disorders

L Pleva, P Kovarova, L Faldynova, P Plevova, S Hilscherova, J Zapletalova, P Kusnierova, P Kukla

Publication Date: 2015-10-24

Variant appearance in text: LDLR: 81C>T; Cys27=; rs2228671

PubMed Link: 26497592

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics

S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson

Publication Date: 2015-09

Variant appearance in text: LDLR: 81C>T; rs2228671

PubMed Link: 26327206

Variant Present in the following documents:

• pgen.1005379.s008.xlsx

View BVdb publication page

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Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes.

Plos One

X Kong, Q Zhao, X Xing, B Zhang, X Zhang, J Hong, W Yang

Publication Date: 2015

Variant appearance in text: rs2228671

PubMed Link: 26252223

Variant Present in the following documents:

• Main text

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: rs2228671

PubMed Link: 26130488

Variant Present in the following documents:

• ejhg2015150x4.xls

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

Publication Date: 2015-06-26

Variant appearance in text: rs2228671

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.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: rs2228671

PubMed Link: 26096528

Variant Present in the following documents:

• NIHMS1043972-supplement-Supplemental.pdf

View BVdb publication page

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Functional genomics, genetics, and bioinformatics.

Biomed Research International

Y Deng, H Wang, R Hamamoto, D Schaffer, S Duan

Publication Date: 2015

Variant appearance in text: rs2228671

PubMed Link: 25977917

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima

Publication Date: 2014-12

Variant appearance in text: LDLR: Cys27Cys; rs2228671

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between CETP, MLXIPL, and TOMM40 polymorphisms and serum lipid levels in a Latvian population.

Meta Gene

I Radovica, D Fridmanis, I Silamikelis, L Nikitina-Zake, J Klovins

Publication Date: 2014-12

Variant appearance in text: rs2228671

PubMed Link: 25606439

Variant Present in the following documents:

• mmc1.docx

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: rs2228671

PubMed Link: 25474351

Variant Present in the following documents:

• pgen.1004678.s007.xlsx

View BVdb publication page

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APOC3, coronary disease, and complexities of Mendelian randomization.

Cell Metabolism

JC Cohen, S Stender, HH Hobbs

Publication Date: 2014-09-02

Variant appearance in text: rs2228671

PubMed Link: 25185943

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal

Y Dementieva, TL Green, DA Primerano, L Wei, J Denvir, P Wehner, S Dodson, MR Flood, BA Pollock, M Huff, C Hill, R Kreisberg, A Francis, K Morrison, H Blackwood, M Davis, HM Lee, S Warren,

Publication Date: 2012

Variant appearance in text: LDLR: C27C; rs2228671

PubMed Link: 25134189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between APOE and low-density lipoprotein cholesterol genotypes and cognitive and physical capability: the HALCyon programme.

Age (Dordrecht, Netherlands)

T Alfred, Y Ben-Shlomo, R Cooper, R Hardy, C Cooper, IJ Deary, J Elliott, D Gunnell, SE Harris, M Kivimaki, M Kumari, RM Martin, C Power, AA Sayer, JM Starr, D Kuh, IN Day,

Publication Date: 2014

Variant appearance in text: rs2228671

PubMed Link: 25073452

Variant Present in the following documents:

• 11357_2014_9673_MOESM12_ESM.doc
• 11357_2014_9673_MOESM6_ESM.doc
• aaaaaMain text

View BVdb publication page

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Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.

Biomed Research International

H Ye, Q Zhao, Y Huang, L Wang, H Liu, C Wang, D Dai, L Xu, M Ye, S Duan

Publication Date: 2014

Variant appearance in text: rs2228671

PubMed Link: 24900971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics

OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer

Publication Date: 2014-04

Variant appearance in text: LDLR: Cys27Cys; rs2228671

PubMed Link: 24633158

Variant Present in the following documents:

• NIHMS570373-supplement-1.pdf

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: rs2228671

PubMed Link: 24622110

Variant Present in the following documents:

• NIHMS575195-supplement-000173_-_Supplemental_Material.pdf

View BVdb publication page

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Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal.

Diabetology & Metabolic Syndrome

V Gaio, B Nunes, A Fernandes, F Mendonça, F Horta Correia, A Beleza, AP Gil, M Bourbon, A Vicente, CM Dias, M Barreto da Silva

Publication Date: 2014-02-18

Variant appearance in text: rs2228671

PubMed Link: 24548628

Variant Present in the following documents:

• 1758-5996-6-23-S1.docx
• aaaaaMain text

View BVdb publication page

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Meta-analysis of gene-level tests for rare variant association.

Nature Genetics

DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis

Publication Date: 2014-02

Variant appearance in text: rs2228671

PubMed Link: 24336170

Variant Present in the following documents:

• Main text
• NIHMS543085-supplement-1.pdf

View BVdb publication page

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

Bmc Public Health

M Imboden, NM Probst-Hensch

Publication Date: 2013-11-25

Variant appearance in text: rs2228671

PubMed Link: 24274136

Variant Present in the following documents:

• 1471-2458-13-1094-S2.xlsx

View BVdb publication page

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Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology

JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, JR Field, JM Pulley, AH Ramirez, E Bowton, MA Basford, DS Carrell, PL Peissig, AN Kho, JA Pacheco, LV Rasmussen, DR Crosslin, PK Crane, J Pathak, SJ Bielinski, SA Pendergrass, H Xu, LA Hindorff, R Li, TA Manolio, CG Chute, RL Chisholm, EB Larson, GP Jarvik, MH Brilliant, CA McCarty, IJ Kullo, JL Haines, DC Crawford, DR Masys, DM Roden

Publication Date: 2013-12

Variant appearance in text: rs2228671

PubMed Link: 24270849

Variant Present in the following documents:

• NIHMS561785-supplement-supplementary_data.pdf

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: rs2228671

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: rs2228671

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: rs2228671

PubMed Link: 24068893

Variant Present in the following documents:

• pbio.1001661.s003.xlsx

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: rs2228671

PubMed Link: 23940718

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

Plos One

I Radovica, D Fridmanis, I Vaivade, L Nikitina-Zake, J Klovins

Publication Date: 2013

Variant appearance in text: rs2228671

PubMed Link: 23675527

Variant Present in the following documents:

• pone.0064191.s002.docx

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: rs2228671

PubMed Link: 23634756

Variant Present in the following documents:

• 1471-2156-14-33-S1.pdf

View BVdb publication page

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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: rs2228671

PubMed Link: 23555974

Variant Present in the following documents:

• pone.0060454.s001.pdf

View BVdb publication page

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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One

GJ McKay, DA Savage, CC Patterson, G Lewis, AJ McKnight, AP Maxwell,

Publication Date: 2013

Variant appearance in text: rs2228671

PubMed Link: 23555584

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries

Publication Date: 2013-06-05

Variant appearance in text: rs2228671

PubMed Link: 23535506

Variant Present in the following documents:

• mmc1.docx

View BVdb publication page

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Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies.

Plos One

JL Bolton, MC Stewart, JF Wilson, N Anderson, JF Price

Publication Date: 2013

Variant appearance in text: rs2228671

PubMed Link: 23468967

Variant Present in the following documents:

• Main text
• pone.0057310.s004.pdf
• pone.0057310.s006.pdf
• pone.0057310.s007.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: rs2228671

PubMed Link: 23382687

Variant Present in the following documents:

• pgen.1003087.s001.xlsx

View BVdb publication page

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A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics

F Gao, HE Ihn, MW Medina, RM Krauss

Publication Date: 2013-04-01

Variant appearance in text: rs2228671

PubMed Link: 23297366

Variant Present in the following documents:

• Main text

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: rs2228671

PubMed Link: 23190900

Variant Present in the following documents:

• NIHMS404713-supplement-01.pdf

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: rs2228671

PubMed Link: 23063622

Variant Present in the following documents:

• mmc4.xls
• mmc5.xls
• 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: rs2228671

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: rs2228671

PubMed Link: 23036011

Variant Present in the following documents:

• 1471-2350-13-94-S1.pdf

View BVdb publication page

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A mixed-model approach for genome-wide association studies of correlated traits in structured populations.

Nature Genetics

A Korte, BJ Vilhjálmsson, V Segura, A Platt, Q Long, M Nordborg

Publication Date: 2012-09

Variant appearance in text: rs2228671

PubMed Link: 22902788

Variant Present in the following documents:

• Main text
• NIHMS392993-supplement-1.pdf

View BVdb publication page

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Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.

Atherosclerosis

BH Shirts, MT Howard, SJ Hasstedt, MN Nanjee, S Knight, JF Carlquist, JL Anderson, PN Hopkins, SC Hunt

Publication Date: 2012-05

Variant appearance in text: rs2228671

PubMed Link: 22425169

Variant Present in the following documents:

• Main text
• NIHMS361140-supplement-01.doc

View BVdb publication page

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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: rs2228671

PubMed Link: 22403240

Variant Present in the following documents:

• NIHMS369440-supplement-01.pdf

View BVdb publication page

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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.

Nature Genetics

B Feenstra, F Geller, C Krogh, MV Hollegaard, S Gørtz, HA Boyd, JC Murray, DM Hougaard, M Melbye

Publication Date: 2012-02-05

Variant appearance in text: rs2228671

PubMed Link: 22306654

Variant Present in the following documents:

• Main text
• NIHMS367176-supplement-1.doc

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: rs2228671

PubMed Link: 22286219

Variant Present in the following documents:

• NIHMS444574-supplement-supplementary_table_2.xlsx

View BVdb publication page

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Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.

European Heart Journal

H Grallert, J Dupuis, JC Bis, A Dehghan, M Barbalic, J Baumert, C Lu, NL Smith, AG Uitterlinden, R Roberts, N Khuseyinova, RB Schnabel, KM Rice, F Rivadeneira, RC Hoogeveen, JD Fontes, C Meisinger, JF Keaney, R Lemaitre, YS Aulchenko, RS Vasan, S Ellis, SL Hazen, CM van Duijn, JJ Nelson, W März, H Schunkert, RM McPherson, HA Stirnadel-Farrant, BM Psaty, C Gieger, D Siscovick, A Hofman, T Illig, M Cushman, JF Yamamoto, JI Rotter, MG Larson, AF Stewart, E Boerwinkle, JC Witteman, RP Tracy, W Koenig, EJ Benjamin, CM Ballantyne

Publication Date: 2012-01

Variant appearance in text: rs2228671

PubMed Link: 22003152

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Plos Genetics

Publication Date: 2011-09

Variant appearance in text: LDLR: C27C; rs2228671

PubMed Link: 21966275

Variant Present in the following documents:

• pgen.1002260.s008.pdf

View BVdb publication page

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Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk.

Molecular Neurodegeneration

CR Simmons, F Zou, SG Younkin, S Estus

Publication Date: 2011-08-25

Variant appearance in text: rs2228671

PubMed Link: 21867541

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders

Publication Date: 2011-11

Variant appearance in text: LDLR: 81C>T; C27C; rs2228671

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2228671

PubMed Link: 21860704

Variant Present in the following documents:

• Main text

View BVdb publication page

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Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One

JY Tung, CB Do, DA Hinds, AK Kiefer, JM Macpherson, AB Chowdry, U Francke, BT Naughton, JL Mountain, A Wojcicki, N Eriksson

Publication Date: 2011

Variant appearance in text: rs2228671

PubMed Link: 21858135

Variant Present in the following documents:

• pone.0023473.s005.docx
• pone.0023473.s010.docx

View BVdb publication page

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Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

Bmc Medical Genetics

G Antoni, T Oudot-Mellakh, A Dimitromanolakis, M Germain, W Cohen, P Wells, M Lathrop, F Gagnon, PE Morange, DA Tregouet

Publication Date: 2011-08-02

Variant appearance in text: rs2228671

PubMed Link: 21810271

Variant Present in the following documents:

• Main text

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: rs2228671

PubMed Link: 21738485

Variant Present in the following documents:

• Main text
• pgen.1002138.s016.docx

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.336C>T	p.Cys112=	synonymous_variant	2/18	-
ENST00000455727.2	c.81C>T	p.Cys27=	synonymous_variant	2/16	-
ENST00000535915.1	c.81C>T	p.Cys27=	synonymous_variant	2/17	-
ENST00000545707.1	c.81C>T	p.Cys27=	synonymous_variant	2/16	-
ENST00000557933.1	c.81C>T	p.Cys27=	synonymous_variant	2/18	-
ENST00000557958.1	n.167C>T	-	non_coding_transcript_exon_variant	2/3	-
ENST00000558013.1	c.81C>T	p.Cys27=	synonymous_variant	2/18	-
ENST00000558518.1	c.81C>T	p.Cys27=	synonymous_variant	2/18	-
ENST00000560502.1	n.167C>T	-	non_coding_transcript_exon_variant	2/2	-
NM_000527.5	c.81C>T	p.Cys27=	synonymous_variant	2/18	-
NM_001195798.2	c.81C>T	p.Cys27=	synonymous_variant	2/18	-
NM_001195799.2	c.81C>T	p.Cys27=	synonymous_variant	2/17	-
NM_001195800.2	c.81C>T	p.Cys27=	synonymous_variant	2/16	-
NM_001195803.2	c.81C>T	p.Cys27=	synonymous_variant	2/16	-