Variant ID: 19-11210912-C-T

NM_000527.4(LDLR):c.81C>T;(p.Cys27Cys)

This variant was identified in 96 publications




Publications:


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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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 -