rs730154

This population-based study of 4,470 breast cancer cases from the SEARCH cohort examined associations between germline polymorphisms in 6 steroid hormone metabolism genes (COMT, CYP19A1, ESR1, PGR, SULT1E1, STS) and survival after breast cancer diagnosis. A COMT polymorphism (rs4818) showed significant association with survival in a dominant model (HR=0.80, 95% CI: 0.69-0.95, p=0.009), though this was only marginally significant after permutation adjustment (p=0.047). No significant associations were found in the other genes studied.

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.