rs10459592

This is a regulatory region variant variant in the CYP19A1 gene.

▶

GWAS Catalog Trait Associations (2)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.02
p 2.0e-12
N 186,825
Major Consortium StudyLarge GWAS
European

serum gamma-glutamyl transferase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 3.0e-12
N 394,642
Large GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Aromatase (CYP19) promoter gene polymorphism and risk of nonviral hepatitis‐related hepatocellular carcinoma
AssociationN=814Woon‐Puay Koh et al.(2011)· Cancer

This case-control study of 379 HCC cases and 435 controls in China and Los Angeles investigated the CYP19 (aromatase) rs10459592 A/C promoter polymorphism. The C allele showed 60% higher transcriptional activity (p=0.007) in reporter assays. Among individuals without hepatitis B or C markers, the C allele showed a dose-dependent association with HCC risk (p for trend=0.014), with CC homozygotes having OR=2.25 (95% CI=1.18–4.31) compared to AA homozygotes, suggesting a role for hepatic aromatase expression in non-viral hepatitis-related hepatocellular carcinoma development.

Traits studied:Hepatocellular carcinoma
PubMedDOIMetascience Observatory
▶
Single nucleotide polymorphisms of CYP19A1 predict clinical outcomes and adverse events associated with letrozole in patients with metastatic breast cancer
AssociationN=109In Hae Park et al.(2011)· Cancer Chemotherapy and Pharmacology

A pharmacogenetic study of 109 Korean patients with hormone receptor-positive metastatic breast cancer treated with letrozole found that three CYP19A1 SNP variants (rs700518, rs10459592, rs4775936) were associated with improved clinical benefit rate (OR = 2.45-2.61, P = 0.025-0.036). Haplotype analysis showed specific haplotypes M_1_3 and M_2_1 were strongly associated with better response (OR = 3.37-5.33) and improved time to progression, suggesting CYP19A1 polymorphisms may serve as predictive markers for aromatase inhibitor efficacy.

Traits studied:ArthralgiaBone painClinical benefit rateHot flashesLetrozole treatment responseMetastatic breast cancerTime to progression
PubMedDOIMetascience Observatory

About CYP19A1

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 and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

View all CYP19A1 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…