Polymorphisms in the p450 c17 (17-hydroxylase/17,20-Lyase) and p450 c19 (aromatase) genes: Association with serum sex steroid concentrations and bone mineral density in postmenopausal women

J Somner, S McLellan, J Cheung, Y T Mak, M L Frost, K M Knapp, A S Wierzbicki, M Wheeler, I Fogelman, S H Ralston, G N Hampson

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The CYP 17 and CYP 19 genes encode 17alpha-hydroxylase/17,20-lyase and aromatase, respectively, both involved in sex hormone synthesis. We investigated the association between 2 common polymorphisms in 1) the promoter region (T-->C substitution) of CYP 17, and 2) exon 3 (G-->A) of CYP 19, bone mineral density (BMD) and serum androgen/estradiol, in a case-control study of 252 postmenopausal women aged 64.5 +/- 9.2 yr ( mean +/- SD). There was no significant difference in serum estradiol concentrations between cases ( n = 136) and controls ( n = 116). The CYP 19 genotype was significantly associated with serum estradiol ( P = 0.002). Women with the AA genotype had higher serum estradiol concentrations compared with those with the GG genotype ( P = 0.03). In older women, those with the CYP 19 GA and GG genotypes had an increased prevalence of osteoporosis ( P = 0.04) and fractures ( P = 0.003). We found no significant association between CYP 17 genotype and serum androgens and estradiol concentrations. However, a significant association was seen between BMD values at the femoral neck with CYP 17 genotype in cases ( P = 0.04) and in the whole study population (P = 0.012). Subjects with the CC genotype had significantly lower BMD ( mean +/- SD: TT, 0.7 +/- 0.16; CC, 0.6 +/- 0.08 g/cm(2); P = 0.006). In conclusion, both CYP 17 and CYP 19 are candidate genes for osteoporosis in postmenopausal women.

Original languageEnglish
Pages (from-to)344-351
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Publication statusPublished - 2004


  • CYP17
  • MEN

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