rs2255192

This variant is located in the CYP19A1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Aromatase deficiency; not provided

View on ClinVar →
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Research that mentions this SNP (2)

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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
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Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families
AssociationN=1,873Tie-Lin Yang et al.(2006)· Human Genetics

This family-based association study examined CYP19 gene polymorphisms and their relationship with adult height in 1,873 Caucasian subjects from 405 nuclear families. Using QTDT and FBAT analyses, the authors found SNP rs730154 significantly associated with height (QTDT P=0.0030, FBAT P=0.0016), with the strongest associations observed in female subjects. Haplotype analysis corroborated these findings, showing that haplotypes in block 4 containing rs730154 were significantly associated with height variation, suggesting CYP19 may influence adult height through estrogen-related pathways.

Traits studied:Adult height variationHeight
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.

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