HMGCR c.450+224G>A

Variant ID: 5-74641707-G-A

NM_000859.2(HMGCR):c.450+224G>A

This variant was identified in 18 publications

View GRCh38 version.




Publications:


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: rs2303152
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.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: rs2303152
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: rs2303152
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: rs2303152
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: rs2303152
PubMed Link: 34862478
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2981.pdf
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: rs2303152
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: rs2303152
PubMed Link: 32838838
Variant Present in the following documents:
  • Main text
  • elife-58567.pdf
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: rs2303152
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
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: rs2303152
PubMed Link: 31756303
Variant Present in the following documents:
  • hcg-12-e002711-s001.pdf
View BVdb publication page



The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2nd Trimester Lipid Levels and Preterm Birth.

Frontiers In Genetics
Kovac, Ursa U; Jasper, Elizabeth A EA; Smith, Caitlin J CJ; Baer, Rebecca J RJ; Bedell, Bruce B; Donovan, Brittney M BM; Weathers, Nancy N; Prosenc Zmrzljak, Ursula U; Jelliffe-Pawlowski, Laura L LL; Rozman, Damjana D; Ryckman, Kelli K KK
Publication Date: 2019

Variant appearance in text: rs2303152
PubMed Link: 31249592
Variant Present in the following documents:
  • Presentation_1.pdf
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: rs2303152
PubMed Link: 30645169
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs2303152
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_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: rs2303152
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: rs2303152
PubMed Link: 28340513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic alterations affecting cholesterol metabolism and human fertility.

Biology Of Reproduction
DeAngelis, Anthony M AM; Roy-O'Reilly, Meaghan M; Rodriguez, Annabelle A
Publication Date: 2014-11

Variant appearance in text: rs2303152
PubMed Link: 25122065
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.

Pediatric Research
Bream, Elise N A EN; Leppellere, Cara R CR; Cooper, Margaret E ME; Dagle, John M JM; Merrill, David C DC; Christensen, Kaare K; Simhan, Hyagriv N HN; Fong, Chin-To CT; Hallman, Mikko M; Muglia, Louis J LJ; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2013-02

Variant appearance in text: rs2303152
PubMed Link: 23168575
Variant Present in the following documents:
  • Main text
  • nihms447458.pdf
View BVdb publication page



Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
Mann, P C PC; Cooper, M E ME; Ryckman, K K KK; Comas, B B; Gili, J J; Crumley, S S; Bream, E N A EN; Byers, H M HM; Piester, T T; Schaefer, A A; Christine, P J PJ; Lawrence, A A; Schaa, K L KL; Kelsey, K J P KJ; Berends, S K SK; Momany, A M AM; Gadow, E E; Cosentino, V V; Castilla, E E EE; López Camelo, J J; Saleme, C C; Day, L J LJ; England, S K SK; Marazita, M L ML; Dagle, J M JM; Murray, J C JC
Publication Date: 2013-05

Variant appearance in text: rs2303152
PubMed Link: 23018797
Variant Present in the following documents:
  • Main text
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: rs2303152
PubMed Link: 19554360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.

Journal Of Perinatology : Official Journal Of The California Perinatal Association
Steffen, K M KM; Cooper, M E ME; Shi, M M; Caprau, D D; Simhan, H N HN; Dagle, J M JM; Marazita, M L ML; Murray, J C JC
Publication Date: 2007-11

Variant appearance in text: rs2303152
PubMed Link: 17855807
Variant Present in the following documents:
  • Main text
View BVdb publication page