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Many clinical conditions, including osteoporosis, are  associated with serum levels of sex steroids. Enzymes that regulate  rate-limiting steps of steroidogenic pathways, such as CYP17 and CYP19, are  also regarded as significant factors that may cause the development of these  conditions. We investigated the association of two common polymorphisms, in the  promoter region (T→C substitution) of CYP17 and exon 3 (G→A) of CYP19, with  bone mineral density (BMD) in the lumbar spine and femoral neck and serum  androgen/estradiol, in a case-control study of 172 postmenopausal women aged  62.3 ± 9.6 years (mean ± SD). The CYP17 TC genotype was significantly  overrepresented in patients compared to controls, and TC genotype neck T-score  and lumbar T-score values were significantly higher in patients compared to  controls. CYP17 TC and TT genotype testosterone and DHEA-SO(4) levels were lower in patients compared to controls.  All three genotypes of CYP19 had almost the same distribution among patients.  The CYP19 AG genotype, however, was most frequent among controls. CYP19 lumbar  BMD levels were close to each other among the different genotypes; however, AA  and AG genotypes were significantly lower in patients. Testosterone and DHEA-SO(4) levels in the CYP19 GG genotype were higher compared  to those of the other genotypes in patients but not in controls. CYP19 GA  individuals had lower E(2) levels  and lower BMD in controls and patients. Femoral neck BMD and lumbar T-score  were also diminished with GA transition. In conclusion, CYP17 and CYP19 gene  polymorphisms were found to be associated with osteoporosis in postmenopausal  women in Turkey.

Association of serum sex steroid levels and bone mineral density with CYP17 and CYP19 gene polymorphisms in postmenopausal women in Turkey