LDLR c.81C>T ;(p.C27=)

Variant ID: 19-11210912-C-T

NM_000527.4(LDLR):c.81C>T;(p.C27=)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.

Pharmacogenomics And Personalized Medicine
Swystun, Laura L LL; Lillicrap, David D
Publication Date: 2023

Variant appearance in text: LDLR: 81C>T; Cys27=; rs2228671
PubMed Link: 36998673
Variant Present in the following documents:
  • Main text
  • pgpm-16-239.pdf
View BVdb publication page



Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes
Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R
Publication Date: 2023-03-15

Variant appearance in text: rs2228671
PubMed Link: 36980993
Variant Present in the following documents:
  • genes-14-00721.pdf
View BVdb publication page



Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: LDLR: 81C>T; Cys27Cys; rs2228671
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.

Life (Basel, Switzerland)
Mir, Rashid R; Elfaki, Imadeldin I; Javid, Jamsheed J; Barnawi, Jameel J; Altayar, Malik A MA; Albalawi, Salem Owaid SO; Jalal, Mohammed M MM; Tayeb, Faris J FJ; Yousif, Aadil A; Ullah, Mohammad Fahad MF; AbuDuhier, Faisel M FM
Publication Date: 2022-11-16

Variant appearance in text: rs2228671
PubMed Link: 36431040
Variant Present in the following documents:
  • life-12-01905.pdf
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: LDLR: 81C>T; C27C; rs2228671
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Haplotype of ESR1 and PPARD Genes Is Associated with Higher Anthropometric Changes in Han Chinese Obesity by Adjusting Dietary Factors-An 18-Month Follow-Up.

Nutrients
Huang, Yu-Min YM; Wang, Weu W; Hsieh, Po-Pin PP; Chen, Hsin-Hung HH
Publication Date: 2022-10-21

Variant appearance in text: rs2228671
PubMed Link: 36297109
Variant Present in the following documents:
  • Main text
  • nutrients-14-04425.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: LDLR: C27C
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: LDLR: C27C; rs2228671
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



SNPs in apolipoproteins contribute to sex-dependent differences in blood lipids before and after a high-fat dietary challenge in healthy U.S. adults.

Bmc Nutrition
Wang, Yining E YE; Kirschke, Catherine P CP; Woodhouse, Leslie R LR; Bonnel, Ellen L EL; Stephensen, Charles B CB; Bennett, Brian J BJ; Newman, John W JW; Keim, Nancy L NL; Huang, Liping L
Publication Date: 2022-09-01

Variant appearance in text: rs2228671
PubMed Link: 36050800
Variant Present in the following documents:
  • Main text
  • 40795_2022_Article_592.pdf
View BVdb publication page



Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07

Variant appearance in text: rs2228671
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710.pdf
View BVdb publication page



Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine
Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A
Publication Date: 2021-03-31

Variant appearance in text: LDLR: 81C>T; Cys27=
PubMed Link: 33807407
Variant Present in the following documents:
  • Main text
  • jcm-10-01399-s001.pdf
  • jcm-10-01399.pdf
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs2228671
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



Cellular Mechanisms of Human Atherogenesis: Focus on Chronification of Inflammation and Mitochondrial Mutations.

Frontiers In Pharmacology
Markin, Alexander M AM; Sobenin, Igor A IA; Grechko, Andrey V AV; Zhang, Dongwei D; Orekhov, Alexander N AN
Publication Date: 2020

Variant appearance in text: rs2228671
PubMed Link: 32528276
Variant Present in the following documents:
  • fphar-11-00642.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LDLR: 81C>T; Cys27=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



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

Genes
Huerta-Chagoya, Alicia A; Moreno-Macías, Hortensia H; Sevilla-González, Magdalena M; Rodríguez-Guillén, Rosario R; Ordóñez-Sánchez, María L ML; Gómez-Velasco, Donají D; Muñóz-Hernández, Liliana L; Segura-Kato, Yayoi Y; Arellano-Campos, Olimpia O; Cruz-Bautista, Ivette I; Aguilar-Salinas, Carlos A CA; Tusié-Luna, Teresa T
Publication Date: 2020-01-20

Variant appearance in text: rs2228671
PubMed Link: 31968565
Variant Present in the following documents:
  • Main text
  • genes-11-00114.pdf
View BVdb publication page



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

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LDLR: 81C>T; Cys27=; rs2228671
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
  • 13059_2019_1838_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

Human Heredity
Yu, Youfei Y; Xia, Lu L; Lee, Seunggeun S; Zhou, Xiang X; Stringham, Heather M HM; Boehnke, Michael M; Mukherjee, Bhramar B
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)
Leal, Luis G LG; David, Alessia A; Jarvelin, Marjo-Riita MR; Sebert, Sylvain S; Männikkö, Minna M; Karhunen, Ville V; Seaby, Eleanor E; Hoggart, Clive C; Sternberg, Michael J E MJE
Publication Date: 2019-12-15

Variant appearance in text: rs2228671
PubMed Link: 31070705
Variant Present in the following documents:
  • Main text
  • btz310.pdf
View BVdb publication page



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

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs2228671
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_78.pdf
View BVdb publication page



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

Journal Of Diabetes Research
Franzago, Marica M; Fraticelli, Federica F; Di Nicola, Marta M; Bianco, Francesco F; Marchetti, Daniela D; Celentano, Claudio C; Liberati, Marco M; De Caterina, Raffaele R; Stuppia, Liborio L; Vitacolonna, Ester E
Publication Date: 2018

Variant appearance in text: rs2228671
PubMed Link: 30671483
Variant Present in the following documents:
  • Main text
  • JDR2018-9242579.pdf
View BVdb publication page



Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.

Nature Communications
Zhu, Xiang X; Stephens, Matthew M
Publication Date: 2018-10-19

Variant appearance in text: rs2228671
PubMed Link: 30341297
Variant Present in the following documents:
  • 41467_2018_6805_MOESM1_ESM.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2228671
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



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

Bmc Gastroenterology
Harada, Rie R; Kimura, Masako M; Sato, Yasushi Y; Taniguchi, Tatsuya T; Tomonari, Tetsu T; Tanaka, Takahiro T; Tanaka, Hironori H; Muguruma, Naoki N; Shinomiya, Hirohiko H; Honda, Hirohito H; Imoto, Issei I; Sogabe, Masahiro M; Okahisa, Toshiya T; Takayama, Tetsuji T
Publication Date: 2018-01-30

Variant appearance in text: rs2228671
PubMed Link: 29382324
Variant Present in the following documents:
  • Main text
  • 12876_2018_Article_747.pdf
View BVdb publication page



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

Frontiers In Neurology
Zhang, Lijun L; Wang, Xue X; Wang, Ming M; Sterling, Nick W NW; Du, Guangwei G; Lewis, Mechelle M MM; Yao, Tao T; Mailman, Richard B RB; Li, Runze R; Huang, Xuemei X
Publication Date: 2017

Variant appearance in text: rs2228671
PubMed Link: 29021777
Variant Present in the following documents:
  • Main text
  • fneur-08-00501.pdf
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
Yue, Yun-Hua YH; Liu, Ling-Yun LY; Hu, Liang L; Li, You-Mei YM; Mao, Jie-Ping JP; Yang, Xiao-Ying XY; Dila, Na-Mu NM
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
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs2228671
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
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.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
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



Clinical Perspectives of Genetic Analyses on Dyslipidemia and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Kawashiri, Masa-Aki MA; Yamagishi, Masakazu M
Publication Date: 2017-05-01

Variant appearance in text: rs2228671
PubMed Link: 28250266
Variant Present in the following documents:
  • jat-24-452.pdf
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
Franzago, Marica M; Fraticelli, Federica F; Nicolucci, Antonio A; Celentano, Claudio C; Liberati, Marco M; Stuppia, Liborio L; Vitacolonna, Ester E
Publication Date: 2017

Variant appearance in text: rs2228671
PubMed Link: 28133617
Variant Present in the following documents:
  • Main text
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.)
Ferraz-Amaro, Iván I; Winchester, Robert R; Gregersen, Peter K PK; Reynolds, Richard J RJ; Wasko, Mary Chester MC; Oeser, Anette A; Chung, Cecilia P CP; Stein, C Michael CM; Giles, Jon T JT; Bathon, Joan M JM
Publication Date: 2017-03

Variant appearance in text: rs2228671
PubMed Link: 27696788
Variant Present in the following documents:
  • Main text
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
Hanson, Robert L RL; Leti, Fatjon F; Tsinajinnie, Darwin D; Kobes, Sayuko S; Puppala, Sobha S; Curran, Joanne E JE; Almasy, Laura L; Lehman, Donna M DM; Blangero, John J; Duggirala, Ravindranath R; DiStefano, Johanna K JK
Publication Date: 2016-06

Variant appearance in text: rs2228671
PubMed Link: 27117576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Medical implications of technical accuracy in genome sequencing.

Genome Medicine
Goldfeder, Rachel L RL; Priest, James R JR; Zook, Justin M JM; Grove, Megan E ME; Waggott, Daryl D; Wheeler, Matthew T MT; Salit, Marc M; Ashley, Euan A EA
Publication Date: 2016-03-02

Variant appearance in text: LDLR: C27C
PubMed Link: 26932475
Variant Present in the following documents:
  • 13073_2016_269_MOESM6_ESM.xlsx, sheet 1
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
Pleva, L L; Kovarova, P P; Faldynova, L L; Plevova, P P; Hilscherova, S S; Zapletalova, J J; Kusnierova, P P; Kukla, P P
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



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

Plos One
Kong, Xiaomu X; Zhao, Qi Q; Xing, Xiaoyan X; Zhang, Bo B; Zhang, Xuelian X; Hong, Jing J; Yang, Wenying W
Publication Date: 2015

Variant appearance in text: rs2228671
PubMed Link: 26252223
Variant Present in the following documents:
  • Main text
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: LDLR: C27C; rs2228671
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Functional genomics, genetics, and bioinformatics.

Biomed Research International
Deng, Youping Y; Wang, Hongwei H; Hamamoto, Ryuji R; Schaffer, David D; Duan, Shiwei S
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
Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M
Publication Date: 2014-12

Variant appearance in text: rs2228671
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LDLR: C27C; rs2228671
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications
Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I
Publication Date: 2014-09-09

Variant appearance in text: LDLR: C27C
PubMed Link: 25203624
Variant Present in the following documents:
  • ncomms5835-s5.xlsx, sheet 4
View BVdb publication page



APOC3, coronary disease, and complexities of Mendelian randomization.

Cell Metabolism
Cohen, Jonathan C JC; Stender, Stefan S; Hobbs, Helen H HH
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
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
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)
Alfred, Tamuno T; Ben-Shlomo, Yoav Y; Cooper, Rachel R; Hardy, Rebecca R; Cooper, Cyrus C; Deary, Ian J IJ; Elliott, Jane J; Gunnell, David D; Harris, Sarah E SE; Kivimaki, Mika M; Kumari, Meena M; Martin, Richard M RM; Power, Chris C; Sayer, Avan Aihie AA; Starr, John M JM; Kuh, Diana D; Day, Ian N M IN; ,
Publication Date: 2014

Variant appearance in text: rs2228671
PubMed Link: 25073452
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Biomed Research International
Ye, Huadan H; Zhao, Qianlei Q; Huang, Yi Y; Wang, Lingyan L; Liu, Haibo H; Wang, Chunming C; Dai, Dongjun D; Xu, Leiting L; Ye, Meng M; Duan, Shiwei S
Publication Date: 2014

Variant appearance in text: rs2228671
PubMed Link: 24900971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs2228671
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.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
Gaio, Vânia V; Nunes, Baltazar B; Fernandes, Aida A; Mendonça, Francisco F; Horta Correia, Filomena F; Beleza, Alvaro A; Gil, Ana Paula AP; Bourbon, Mafalda M; Vicente, Astrid A; Dias, Carlos Matias CM; Barreto da Silva, Marta M
Publication Date: 2014-02-18

Variant appearance in text: rs2228671
PubMed Link: 24548628
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs2228671
PubMed Link: 24336170
Variant Present in the following documents:
  • Main text
  • NIHMS543085-supplement-1.pdf
  • nihms543085.pdf
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Properties of local interactions and their potential value in complementing genome-wide association studies.

Plos One
Wei, Wenhua W; Gyenesei, Attila A; Semple, Colin A M CA; Haley, Chris S CS
Publication Date: 2013

Variant appearance in text: rs2228671
PubMed Link: 23940718
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  • Main text
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Association analysis of dyslipidemia-related genes in diabetic nephropathy.

Plos One
McKay, Gareth J GJ; Savage, David A DA; Patterson, Christopher C CC; Lewis, Gareth G; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; ,
Publication Date: 2013

Variant appearance in text: rs2228671
PubMed Link: 23555584
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  • Main text
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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
Bolton, Jennifer L JL; Stewart, Marlene C W MC; Wilson, James F JF; Anderson, Niall N; Price, Jackie F JF
Publication Date: 2013

Variant appearance in text: rs2228671
PubMed Link: 23468967
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A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics
Gao, Feng F; Ihn, Hansel E HE; Medina, Marisa W MW; Krauss, Ronald M RM
Publication Date: 2013-04-01

Variant appearance in text: rs2228671
PubMed Link: 23297366
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A mixed-model approach for genome-wide association studies of correlated traits in structured populations.

Nature Genetics
Korte, Arthur A; Vilhjálmsson, Bjarni J BJ; Segura, Vincent V; Platt, Alexander A; Long, Quan Q; Nordborg, Magnus M
Publication Date: 2012-09

Variant appearance in text: rs2228671
PubMed Link: 22902788
Variant Present in the following documents:
  • Main text
  • NIHMS392993-supplement-1.pdf
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Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.

Atherosclerosis
Shirts, Brian H BH; Howard, Michael T MT; Hasstedt, Sandra J SJ; Nanjee, M Nazeem MN; Knight, Stacey S; Carlquist, John F JF; Anderson, Jeffrey L JL; Hopkins, Paul N PN; Hunt, Steven C SC
Publication Date: 2012-05

Variant appearance in text: rs2228671
PubMed Link: 22425169
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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.

Nature Genetics
Feenstra, Bjarke B; Geller, Frank F; Krogh, Camilla C; Hollegaard, Mads V MV; Gørtz, Sanne S; Boyd, Heather A HA; Murray, Jeffrey C JC; Hougaard, David M DM; Melbye, Mads M
Publication Date: 2012-02-05

Variant appearance in text: rs2228671
PubMed Link: 22306654
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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
Grallert, Harald H; Dupuis, Josée J; Bis, Joshua C JC; Dehghan, Abbas A; Barbalic, Maja M; Baumert, Jens J; Lu, Chen C; Smith, Nicholas L NL; Uitterlinden, André G AG; Roberts, Robert R; Khuseyinova, Natalie N; Schnabel, Renate B RB; Rice, Kenneth M KM; Rivadeneira, Fernando F; Hoogeveen, Ron C RC; Fontes, João Daniel JD; Meisinger, Christa C; Keaney, John F JF; Lemaitre, Rozenn R; Aulchenko, Yurii S YS; Vasan, Ramachandran S RS; Ellis, Stephen S; Hazen, Stanley L SL; van Duijn, Cornelia M CM; Nelson, Jeanenne J JJ; März, Winfried W; Schunkert, Heribert H; McPherson, Ruth M RM; Stirnadel-Farrant, Heide A HA; Psaty, Bruce M BM; Gieger, Christian C; Siscovick, David D; Hofman, Albert A; Illig, Thomas T; Cushman, Mary M; Yamamoto, Jennifer F JF; Rotter, Jerome I JI; Larson, Martin G MG; Stewart, Alexandre F R AF; Boerwinkle, Eric E; Witteman, Jacqueline C M JC; Tracy, Russell P RP; Koenig, Wolfgang W; Benjamin, Emelia J EJ; Ballantyne, Christie M CM
Publication Date: 2012-01

Variant appearance in text: rs2228671
PubMed Link: 22003152
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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
Simmons, Christopher R CR; Zou, Fanggeng F; Younkin, Steven G SG; Estus, Steven S
Publication Date: 2011-08-25

Variant appearance in text: rs2228671
PubMed Link: 21867541
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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
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: LDLR: 81C>T; C27C; rs2228671
PubMed Link: 21862702
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs2228671
PubMed Link: 21860704
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Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

Bmc Medical Genetics
Antoni, Guillemette G; Oudot-Mellakh, Tiphaine T; Dimitromanolakis, Apostolos A; Germain, Marine M; Cohen, William W; Wells, Philip P; Lathrop, Mark M; Gagnon, France F; Morange, Pierre-Emmanuel PE; Tregouet, David-Alexandre DA
Publication Date: 2011-08-02

Variant appearance in text: rs2228671
PubMed Link: 21810271
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-102.pdf
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Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
Dumitrescu, Logan L; Carty, Cara L CL; Taylor, Kira K; Schumacher, Fredrick R FR; Hindorff, Lucia A LA; Ambite, José L JL; Anderson, Garnet G; Best, Lyle G LG; Brown-Gentry, Kristin K; Bůžková, Petra P; Carlson, Christopher S CS; Cochran, Barbara B; Cole, Shelley A SA; Devereux, Richard B RB; Duggan, Dave D; Eaton, Charles B CB; Fornage, Myriam M; Franceschini, Nora N; Haessler, Jeff J; Howard, Barbara V BV; Johnson, Karen C KC; Laston, Sandra S; Kolonel, Laurence N LN; Lee, Elisa T ET; MacCluer, Jean W JW; Manolio, Teri A TA; Pendergrass, Sarah A SA; Quibrera, Miguel M; Shohet, Ralph V RV; Wilkens, Lynne R LR; Haiman, Christopher A CA; Le Marchand, Loïc L; Buyske, Steven S; Kooperberg, Charles C; North, Kari E KE; Crawford, Dana C DC
Publication Date: 2011-06

Variant appearance in text: rs2228671
PubMed Link: 21738485
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Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.

Haematologica
Wade, Rachel R; Di Bernardo, Maria Chiara MC; Richards, Sue S; Rossi, Davide D; Crowther-Swanepoel, Dalemari D; Gaidano, Gianluca G; Oscier, David G DG; Catovsky, Daniel D; Houlston, Richard S RS
Publication Date: 2011-10

Variant appearance in text: rs2228671
PubMed Link: 21659360
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Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent.

Atherosclerosis
Shirts, Brian H BH; Hasstedt, Sandra J SJ; Hopkins, Paul N PN; Hunt, Steven C SC
Publication Date: 2011-07

Variant appearance in text: rs2228671
PubMed Link: 21466885
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  • Main text
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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA
Publication Date: 2011-03-19

Variant appearance in text: LDLR: 81C>T; Cys27Cys; rs2228671
PubMed Link: 21418584
Variant Present in the following documents:
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Usefulness of Mendelian randomization in observational epidemiology.

International Journal Of Environmental Research And Public Health
Bochud, Murielle M; Rousson, Valentin V
Publication Date: 2010-03

Variant appearance in text: rs2228671
PubMed Link: 20616999
Variant Present in the following documents:
  • ijerph-07-00711.pdf
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Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

Plos One
Zeller, Tanja T; Wild, Philipp P; Szymczak, Silke S; Rotival, Maxime M; Schillert, Arne A; Castagne, Raphaele R; Maouche, Seraya S; Germain, Marine M; Lackner, Karl K; Rossmann, Heidi H; Eleftheriadis, Medea M; Sinning, Christoph R CR; Schnabel, Renate B RB; Lubos, Edith E; Mennerich, Detlev D; Rust, Werner W; Perret, Claire C; Proust, Carole C; Nicaud, Viviane V; Loscalzo, Joseph J; Hübner, Norbert N; Tregouet, David D; Münzel, Thomas T; Ziegler, Andreas A; Tiret, Laurence L; Blankenberg, Stefan S; Cambien, François F
Publication Date: 2010-05-18

Variant appearance in text: rs2228671
PubMed Link: 20502693
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Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Publication Date: 2009-12-01

Variant appearance in text: rs2228671
PubMed Link: 19951432
Variant Present in the following documents:
  • Main text
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