HMGCR
A critical enzyme in cholesterol biosynthesis that catalyzes the conversion of HMG-CoA into the cholesterol precursor mevalonate. This enzyme is the inhibitory target of statins, the most successful cholesterol-lowering drugs to date.
| rsID Number | Major Allele | Minor Allele | Minor Allele Frequency (%) |
|---|---|---|---|
| rs12916 | t | c | 40 |
Risk Description
This SNP does not affect the composition of the HMGCR protein, but regulates its expression levels. People carrying the common minor C allele of this SNP have increased low-density lipoprotein (LDL) levels 1, 2, 3, 4, possibly associated with a higher abundance of HMG-CoA reductase. Excessive LDLs, also known as ‘bad cholesterol’, can build up in blood vessels, increasing the risk of cardiovascular diseases.
Discuss this information with your doctor before taking any course of action.
Citations:
- Klimentidis YC, Arora A, Newell M, Zhou J, Ordovas JM, Renquist BJ, Wood AC. Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank. Diabetes. 2020 Oct;69(10):2194-2205. doi: 10.2337/db19-1134. Epub 2020 Jun 3. PMID: 32493714; PMCID: PMC7506834.
- Barton AR, Sherman MA, Mukamel RE, Loh PR. Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. Nature Genetics. 2021 Aug;53(8):1260-1269. DOI: 10.1038/s41588-021-00892-1. PMID: 34226706; PMCID: PMC8349845.
- Willer CJ, Schmidt EM, Sengupta S, et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 2013 Nov;45(11):1274-1283. DOI: 10.1038/ng.2797. PMID: 24097068; PMCID: PMC3838666.
- Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010 Aug;466(7307):707-713. DOI: 10.1038/nature09270. PMID: 20686565; PMCID: PMC3039276.