Genetic variant in the CYP19 gene and recurrent spontaneous abortions

Abstract Background The CYP19 gene encodes aromatase, a key cytochrome P450 enzyme that converts androgens to estrogens in the ovarian tissues of premenopausal women. A polymorphic variation C/T in the CYP19 gene, rs10046, results in modified estrogen levels through increasing aromatase activity. In the present study, we investigated the possible association between the rs10046 polymorphism of the CYP19 gene and the risk of recurrent spontaneous abortions (RSA) in the Caucasian Greek population. Methods In the prospective case-control study 120 patients and 100 healthy controls were studied. Women who had at least three unexplained spontaneous abortions before 20 weeks of gestation were included in the patient group, while the control group consisted of women with at least two successful pregnancies and without history of abortions. The PCR-RFLP method was used in order to genotype the subjects. Results The frequencies of CC, CT, TT genotypes of the rs10046 variant were 0.275, 0.500, 0.225, respectively, in the patient group and 0.210, 0.480, 0.310, respectively, in the control group. The allele frequencies were 0.525 and 0.475 for C and T, respectively, in the patient group and 0.450 and 0.550 for C and T, respectively, in the control group. Statistical analysis of these results indicated that there are no significant differences in genotype ( P  = 0.2897) or in allele frequencies [ P  = 0.1261, OR (95%) = 1.351(0.9269–1.969)] between RSA patient and the control groups. Conclusion The rs10046 polymorphism of CYP19 gene seems that is not an important contributing factor in the aetiology of RSA in the Greek Caucasian population.