rs41272687

This is a variant in the CYP27A1 gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (1)

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

7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.35
p 3.0e-24
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.37
p 9.0e-14
N 8,809
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
22 submitters14 publications

Cardiovascular phenotype; Cholestanol storage disease (CTX); not specified

View on ClinVar →

About CYP27A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

View all CYP27A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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