HMGCR c.*8G>A

Variant ID: 5-74656175-G-A

NM_000859.2(HMGCR):c.*8G>A

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs5909
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs5909
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361-s001.pdf
  • JAH3-11-e025361.pdf
View BVdb publication page



Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank.

Investigative Ophthalmology & Visual Science
Kim, Jihye J; Kennedy Neary, Marianne T MT; Aschard, Hugues H; Palakkamanil, Mathew M MM; Do, Ron R; Wiggs, Janey L JL; Khawaja, Anthony P AP; Pasquale, Louis R LR; Kang, Jae H JH; ,
Publication Date: 2022-05-02

Variant appearance in text: rs5909
PubMed Link: 35612836
Variant Present in the following documents:
  • iovs-63-5-31_s001.pdf
View BVdb publication page



Investigating the effects of statins on ischemic heart disease allowing for effects on body mass index: a Mendelian randomization study.

Scientific Reports
Li, Shun S; Schooling, C M CM
Publication Date: 2022-03-03

Variant appearance in text: rs5909
PubMed Link: 35241713
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7344.pdf
View BVdb publication page



Investigating genetically mimicked effects of statins via HMGCR inhibition on immune-related diseases in men and women using Mendelian randomization.

Scientific Reports
Yang, Guoyi G; Schooling, C Mary CM
Publication Date: 2021-12-03

Variant appearance in text: rs5909
PubMed Link: 34862478
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2981.pdf
View BVdb publication page



Investigating genetically mimicked effects of statins via HMGCR inhibition on immune-related diseases in men and women using Mendelian randomization.

Scientific Reports
Yang, Guoyi G; Schooling, C Mary CM
Publication Date: 2021-12-03

Variant appearance in text: rs5909
PubMed Link: 34862478
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2981.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs5909
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.

Plos Genetics
Gormley, Mark M; Yarmolinsky, James J; Dudding, Tom T; Burrows, Kimberley K; Martin, Richard M RM; Thomas, Steven S; Tyrrell, Jessica J; Brennan, Paul P; Pring, Miranda M; Boccia, Stefania S; Olshan, Andrew F AF; Diergaarde, Brenda B; Hung, Rayjean J RJ; Liu, Geoffrey G; Legge, Danny D; Tajara, Eloiza H EH; Severino, Patricia P; Lacko, Martin M; Ness, Andrew R AR; Davey Smith, George G; Vincent, Emma E EE; Richmond, Rebecca C RC
Publication Date: 2021-04

Variant appearance in text: rs5909
PubMed Link: 33886544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating pleiotropic effects of statins on ischemic heart disease in the UK Biobank using Mendelian randomisation.

Elife
Schooling, C M CM; Zhao, J V JV; Au Yeung, S L SL; Leung, G M GM
Publication Date: 2020-08-25

Variant appearance in text: rs5909
PubMed Link: 32838838
Variant Present in the following documents:
  • Main text
  • elife-58567.pdf
View BVdb publication page



Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs5909
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 1
View BVdb publication page



Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs5909
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: rs5909
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs5909
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Determinants of Lipids and Cardiovascular Disease Outcomes: A Wide-Angled Mendelian Randomization Investigation.

Circulation. Genomic And Precision Medicine
Allara, Elias E; Morani, Gabriele G; Carter, Paul P; Gkatzionis, Apostolos A; Zuber, Verena V; Foley, Christopher N CN; Rees, Jessica M B JMB; Mason, Amy M AM; Bell, Steven S; Gill, Dipender D; Lindström, Sara S; Butterworth, Adam S AS; Di Angelantonio, Emanuele E; Peters, James J; Burgess, Stephen S; ,
Publication Date: 2019-12

Variant appearance in text: rs5909
PubMed Link: 31756303
Variant Present in the following documents:
  • hcg-12-e002711-s001.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs5909
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Circulation. Genomic And Precision Medicine
Brumpton, Ben M BM; Fritsche, Lars G LG; Zheng, Jie J; Nielsen, Jonas Bille JB; Mannila, Maria M; Surakka, Ida I; Rasheed, Humaira H; Vie, Gunnhild Åberge GÅ; Graham, Sarah E SE; Gabrielsen, Maiken Elvestad ME; Laugsand, Lars Erik LE; Aukrust, Pål P; Vatten, Lars Johan LJ; Damås, Jan Kristian JK; Ueland, Thor T; Janszky, Imre I; Zwart, John-Anker JA; Van't Hooft, Ferdinand M FM; Seidah, Nabil Georges NG; Hveem, Kristian K; Willer, Cristen C; Smith, George Davey GD; Åsvold, Bjørn Olav BO; ,
Publication Date: 2019-01

Variant appearance in text: rs5909
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
Lotta, Luca A LA; Stewart, Isobel D ID; Sharp, Stephen J SJ; Day, Felix R FR; Burgess, Stephen S; Luan, Jian'an J; Bowker, Nicholas N; Cai, Lina L; Li, Chen C; Wittemans, Laura B L LBL; Kerrison, Nicola D ND; Khaw, Kay-Tee KT; McCarthy, Mark I MI; O'Rahilly, Stephen S; Scott, Robert A RA; Savage, David B DB; Perry, John R B JRB; Langenberg, Claudia C; Wareham, Nicholas J NJ
Publication Date: 2018-10-01

Variant appearance in text: rs5909
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.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: rs5909
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.

International Journal Of Cancer
Rodriguez-Broadbent, Henry H; Law, Philip J PJ; Sud, Amit A; Palin, Kimmo K; Tuupanen, Sari S; Gylfe, Alexandra A; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Tanskanen, Tomas T; Kondelin, Johanna J; Kaasinen, Eevi E; Sarin, Antti-Pekka AP; Ripatti, Samuli S; Eriksson, Johan G JG; Rissanen, Harri H; Knekt, Paul P; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Palotie, Aarno A; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Al-Tassan, Nada A NA; Palles, Claire C; Martin, Lynn L; Barclay, Ella E; Farrington, Susan M SM; Timofeeva, Maria N MN; Meyer, Brian F BF; Wakil, Salma M SM; Campbell, Harry H; Smith, Christopher G CG; Idziaszczyk, Shelley S; Maughan, Timothy S TS; Kaplan, Richard R; Kerr, Rachel R; Kerr, David D; Passarelli, Michael N MN; Figueiredo, Jane C JC; Buchanan, Daniel D DD; Win, Aung K AK; Hopper, John L JL; Jenkins, Mark A MA; Lindor, Noralane M NM; Newcomb, Polly A PA; Gallinger, Steven S; Conti, David D; Schumacher, Fred F; Casey, Graham G; Aaltonen, Lauri A LA; Cheadle, Jeremy P JP; Tomlinson, Ian P IP; Dunlop, Malcolm G MG; Houlston, Richard S RS
Publication Date: 2017-06-15

Variant appearance in text: rs5909
PubMed Link: 28340513
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs5909
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs5909
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs5909
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.

Lipids
Chen, Yi-Chun YC; Chen, Yii-Der I YD; Li, Xiaohui X; Post, Wendy W; Herrington, David D; Polak, Joseph F JF; Rotter, Jerome I JI; Taylor, Kent D KD
Publication Date: 2009-08

Variant appearance in text: rs5909
PubMed Link: 19554360
Variant Present in the following documents:
  • Main text
View BVdb publication page