HMGCR c.451-174A>T

Variant ID: 5-74642855-A-T

NM_000859.2(HMGCR):c.451-174A>T

This variant was identified in 43 publications

View GRCh38 version.




Publications:


Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.

Global Cardiology Science & Practice
Neves, Emma E; Khan, Tina T; Williams, Maggie M; Carrera, Marta M; Banya, Winston W; Brugada, Ramon R; Ferrer, Carles C; Morris-Rosendahl, Deborah J DJ; Barbir, Mahmoud M
Publication Date: 2021-12-31

Variant appearance in text: rs17244841
PubMed Link: 36185161
Variant Present in the following documents:
  • Main text
  • gcsp-2021-4-e202131.pdf
View BVdb publication page



Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: rs17244841
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
View BVdb publication page



Dissecting miRNA-Gene Networks to Map Clinical Utility Roads of Pharmacogenomics-Guided Therapeutic Decisions in Cardiovascular Precision Medicine.

Cells
Chatzopoulou, Fani F; Kyritsis, Konstantinos A KA; Papagiannopoulos, Christos I CI; Galatou, Eleftheria E; Mittas, Nikolaos N; Theodoroula, Nikoleta F NF; Papazoglou, Andreas S AS; Karagiannidis, Efstratios E; Chatzidimitriou, Maria M; Papa, Anna A; Sianos, Georgios G; Angelis, Lefteris L; Chatzidimitriou, Dimitrios D; Vizirianakis, Ioannis S IS
Publication Date: 2022-02-10

Variant appearance in text: rs17244841
PubMed Link: 35203258
Variant Present in the following documents:
  • Main text
  • cells-11-00607.pdf
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A Possible Role for HMG-CoA Reductase Inhibitors and Its Association with HMGCR Genetic Variation in Parkinson's Disease.

International Journal Of Molecular Sciences
Pierzchlińska, Anna A; Droździk, Marek M; Białecka, Monika M
Publication Date: 2021-11-11

Variant appearance in text: rs17244841
PubMed Link: 34830081
Variant Present in the following documents:
  • Main text
  • ijms-22-12198.pdf
View BVdb publication page



Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine
Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C
Publication Date: 2021

Variant appearance in text: rs17244841
PubMed Link: 34629888
Variant Present in the following documents:
  • Main text
  • pgpm-14-1275.pdf
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MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy.

Bmc Medical Genomics
Tian, Yong Y; Wang, Junhong J; Liu, Yanxiao Y; Luo, Xiangguang X; Yao, Ziying Z; Wang, Xinjun X; Zhang, Yuanyuan Y; Xu, Cheng C; Zhao, Xiaoyu X
Publication Date: 2021-03-17

Variant appearance in text: rs17244841
PubMed Link: 33731122
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_937.pdf
View BVdb publication page



The Association of 3-Hydroxy-3-Methylglutaryl-CoA Reductase, Apolipoprotein E, and Solute Carrier Organic Anion Genetic Variants with Atorvastatin Response among Jordanian Patients with Type 2 Diabetes.

Life (Basel, Switzerland)
Alhawari, Hussam H; Jarrar, Yazun Y; AlKhatib, Mohammad Ahmad MA; Alhawari, Hussein H; Momani, Munther M; Zayed, Ayman A; Alkamhawi, Ruba R; Zihlif, Malek M
Publication Date: 2020-10-05

Variant appearance in text: rs17244841
PubMed Link: 33027917
Variant Present in the following documents:
  • Main text
  • life-10-00232.pdf
View BVdb publication page



Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020

Variant appearance in text: rs17244841
PubMed Link: 32765042
Variant Present in the following documents:
  • Main text
  • pgpm-13-199.pdf
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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: rs17244841
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Molecular Genetics & Genomic Medicine
Cheng, Yujing Y; Dai, Run R; Chen, Wanlu W; Li, Qi Q; Zhang, Chan C; Yang, Tonghua T
Publication Date: 2020-07

Variant appearance in text: rs17244841
PubMed Link: 32347657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs17244841
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
  • ijms-21-02884.pdf
View BVdb publication page



Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One
Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA
Publication Date: 2020

Variant appearance in text: rs17244841
PubMed Link: 31971968
Variant Present in the following documents:
  • Main text
  • pone.0228000.pdf
View BVdb publication page



Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020-01-06

Variant appearance in text: rs17244841
PubMed Link: 31935801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Molecular Genetics & Genomic Medicine
Chen, Wanlu W; Ding, Heng H; Cheng, Yujing Y; Li, Qi Q; Dai, Run R; Yang, Xin X; Zhang, Chan C
Publication Date: 2019-09

Variant appearance in text: rs17244841
PubMed Link: 31361092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine
Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W
Publication Date: 2019-05

Variant appearance in text: rs17244841
PubMed Link: 30955239
Variant Present in the following documents:
  • Main text
  • MGG3-7-e574.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: HMGCR: 451-174A>T; rs17244841
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine
Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs17244841
PubMed Link: 30235667
Variant Present in the following documents:
  • medi-97-e12231.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: rs17244841
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
Turner, Adam W AW; Wong, Doris D; Dreisbach, Caitlin N CN; Miller, Clint L CL
Publication Date: 2018

Variant appearance in text: rs17244841
PubMed Link: 29988570
Variant Present in the following documents:
  • Main text
  • fcvm-05-00072.pdf
View BVdb publication page



Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations.

Plos One
Jmel, Haifa H; Romdhane, Lilia L; Ben Halima, Yosra Y; Hechmi, Meriem M; Naouali, Chokri C; Dallali, Hamza H; Hamdi, Yosr Y; Shan, Jingxuan J; Abid, Abdelmajid A; Jamoussi, Henda H; Trabelsi, Sameh S; Chouchane, Lotfi L; Luiselli, Donata D; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2018

Variant appearance in text: rs17244841
PubMed Link: 29652911
Variant Present in the following documents:
  • Main text
  • pone.0194842.pdf
View BVdb publication page



Pharmacogenetics of Vascular Risk Factors in Alzheimer's Disease.

Journal Of Personalized Medicine
Cacabelos, Ramón R; Meyyazhagan, Arun A; Carril, Juan C JC; Cacabelos, Pablo P; Teijido, Óscar Ó
Publication Date: 2018-01-03

Variant appearance in text: rs17244841
PubMed Link: 29301387
Variant Present in the following documents:
  • Main text
  • jpm-08-00003.pdf
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Pharmacogenetic Foundations of Therapeutic Efficacy and Adverse Events of Statins.

International Journal Of Molecular Sciences
Arrigoni, Elena E; Del Re, Marzia M; Fidilio, Leonardo L; Fogli, Stefano S; Danesi, Romano R; Di Paolo, Antonello A
Publication Date: 2017-01-06

Variant appearance in text: rs17244841
PubMed Link: 28067828
Variant Present in the following documents:
  • Main text
  • ijms-18-00104.pdf
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Pharmacogenomics of statins: understanding susceptibility to adverse effects.

Pharmacogenomics And Personalized Medicine
Kitzmiller, Joseph P JP; Mikulik, Eduard B EB; Dauki, Anees M AM; Murkherjee, Chandrama C; Luzum, Jasmine A JA
Publication Date: 2016

Variant appearance in text: rs17244841
PubMed Link: 27757045
Variant Present in the following documents:
  • Main text
  • pgpm-9-097.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics
Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L
Publication Date: 2016-05-28

Variant appearance in text: rs17244841
PubMed Link: 27233804
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_379.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology
He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T
Publication Date: 2015

Variant appearance in text: rs17244841
PubMed Link: 26722533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML
Publication Date: 2015-12-03

Variant appearance in text: rs17244841
PubMed Link: 26632549
Variant Present in the following documents:
  • Main text
  • medscimonit-21-3769.pdf
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics
Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J
Publication Date: 2015-06-20

Variant appearance in text: rs17244841
PubMed Link: 26091847
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_232.pdf
View BVdb publication page



Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings
Kaufman, Amy L AL; Spitz, Jared J; Jacobs, Michael M; Sorrentino, Matthew M; Yuen, Shennin S; Danahey, Keith K; Saner, Donald D; Klein, Teri E TE; Altman, Russ B RB; Ratain, Mark J MJ; O'Donnell, Peter H PH
Publication Date: 2015-06

Variant appearance in text: rs17244841
PubMed Link: 26046407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics
Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C
Publication Date: 2014-09-30

Variant appearance in text: rs17244841
PubMed Link: 25266489
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_102.pdf
View BVdb publication page



Evaluation of the effect of genetic variation on the relationship between statins, cardiovascular disease and cancer.

International Journal Of Molecular Epidemiology And Genetics
Desai, Pinkal P; Jay, Allison A; Bock, Cathryn C; Dyson, Gregory G; Okwuosa, Tochukwu T; Simon, Michael S MS
Publication Date: 2013-11-28

Variant appearance in text: rs17244841
PubMed Link: 24319534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics in cardiovascular disease: the challenge of moving from promise to realization: concepts discussed at the Canadian Network and Centre for Trials Internationally Network Conference (CANNeCTIN), June 2009.

Clinical Cardiology
Joseph, Philip G PG; Pare, Guillaume G; Ross, Stephanie S; Roberts, Robert R; Anand, Sonia S SS
Publication Date: 2014-01

Variant appearance in text: rs17244841
PubMed Link: 24105892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statin pharmacogenomics: pursuing biomarkers for predicting clinical outcomes.

Discovery Medicine
Kitzmiller, Joseph P JP; Binkley, Philip F PF; Pandey, Saurabh R SR; Suhy, Adam M AM; Baldassarre, Damiano D; Hartmann, Katherine K
Publication Date: 2013-08

Variant appearance in text: rs17244841
PubMed Link: 23911231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics and cardiovascular disease.

Current Cardiology Reports
Weeke, Peter P; Roden, Dan M DM
Publication Date: 2013-07

Variant appearance in text: rs17244841
PubMed Link: 23689943
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of response to cardiovascular drugs.

Current Opinion In Cardiology
Wells, Quinn S QS; Delaney, Jessica T JT; Roden, Dan M DM
Publication Date: 2012-05

Variant appearance in text: rs17244841
PubMed Link: 22382501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation.

Pharmacogenomics
Ong, Frank S FS; Deignan, Joshua L JL; Kuo, Jane Z JZ; Bernstein, Kenneth E KE; Rotter, Jerome I JI; Grody, Wayne W WW; Das, Kingshuk K
Publication Date: 2012-03

Variant appearance in text: HMGCR: 451-174A>T; rs17244841
PubMed Link: 22380001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiovascular pharmacogenomics.

Circulation Research
Roden, Dan M DM; Johnson, Julie A JA; Kimmel, Stephen E SE; Krauss, Ronald M RM; Medina, Marisa Wong MW; Shuldiner, Alan A; Wilke, Russell A RA
Publication Date: 2011-09-16

Variant appearance in text: rs17244841
PubMed Link: 21921273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping genes that predict treatment outcome in admixed populations.

The Pharmacogenomics Journal
Baye, T M TM; Wilke, R A RA
Publication Date: 2010-12

Variant appearance in text: rs17244841
PubMed Link: 20921971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical assessment incorporating a personal genome.

Lancet (London, England)
Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB
Publication Date: 2010-05-01

Variant appearance in text: rs17244841
PubMed Link: 20435227
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB: very important pharmacogene--HMGCR.

Pharmacogenetics And Genomics
Medina, Marisa Wong MW; Sangkuhl, Katrin K; Klein, Teri E TE; Altman, Russ B RB
Publication Date: 2011-02

Variant appearance in text: rs17244841
PubMed Link: 20084049
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of HMGCR alternative splicing in statin efficacy.

Trends In Cardiovascular Medicine
Medina, Marisa Wong MW; Krauss, Ronald M RM
Publication Date: 2009-07

Variant appearance in text: rs17244841
PubMed Link: 20005478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome.

Fertility And Sterility
Xu, Ning N; Taylor, Kent D KD; Azziz, Ricardo R; Goodarzi, Mark O MO
Publication Date: 2010-06

Variant appearance in text: rs17244841
PubMed Link: 19327767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin.

Circulation
Medina, Marisa Wong MW; Gao, Feng F; Ruan, Weiming W; Rotter, Jerome I JI; Krauss, Ronald M RM
Publication Date: 2008-07-22

Variant appearance in text: rs17244841
PubMed Link: 18559695
Variant Present in the following documents:
  • Main text
View BVdb publication page