rs3846662

This variant is located in the HMGCR gene.

▶

GWAS Catalog Trait Associations (44)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

free cholesterol in large LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 4.0e-90
N 450,015
Large GWAS
multi-ancestry

free cholesterol in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 8.0e-89
N 450,015
Large GWAS
multi-ancestry

cholesterol in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 9.0e-88
N 450,015
Large GWAS
multi-ancestry

free cholesterol in LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 9.0e-87
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 1.0e-85
N 450,015
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 3.0e-84
N 450,015
Large GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.06
p 8.0e-46
N 115,082
Large GWAS
European
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele G
OR 0.08
p 3.0e-10
N 22,000
Large GWAS
South Asian
Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR —
β 0.080
p 2.0e-11
N 17,797
Large GWAS
European

total lipids in IDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 3.0e-84
N 450,015
Large GWAS
multi-ancestry

free cholesterol in small LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 3.0e-82
N 450,015
Large GWAS
multi-ancestry

non-high density lipoprotein cholesterol measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 1.0e-80
N 450,015
Large GWAS
multi-ancestry

cholesterol in large LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 2.0e-80
N 450,015
Large GWAS
multi-ancestry

About HMGCR

HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

View all HMGCR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…