rs284849
This variant is located in the CYP17A1 gene.
▶ClinVar annotation
Deficiency of steroid 17-alpha-monooxygenase; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic variation in CYP17 and endometrial cancer riskAssociationN=1,521Mia M. Gaudet et al.(2008)· Human Genetics
This case-control study of 497 Polish endometrial cancer cases and 1,024 controls examined genetic variation in CYP17 to determine its association with endometrial cancer risk. The researchers genotyped rs743572 and eight other haplotype-tagging SNPs capturing >80% of CYP17 variation. Contrary to previous smaller studies suggesting a 50% decreased risk with the C allele, this study found no significant association (rs743572 per C allele: OR=1.12, 95% CI 0.96-1.30, P=0.15). Meta-analysis of 1,004 cases and 1,907 controls revealed significant heterogeneity (Q test P=0.007) and evidence of publication bias, with no clear association between CYP17 variants and endometrial cancer risk.
About CYP17A1
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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
View all CYP17A1 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…