Abstract
Two adjacent single nucleotide polymorphisms of the vitamin D receptor gene (VDR) ApaI (rs7975232) and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR ApaI, and TaqI allele and genotype frequencies in 50 cases of postmenopausal osteoporotic (cases) and 50 postmenopausal healthy women (controls). The polymorphisms were detected using PCR RFLP. ApaI (rs7975232) polymorphism genotype frequencies were AA 68.08%, Aa 25.53% and aa 6.38% in postmenopausal osteoporotic women and AA 38.00%, Aa 46.00% and aa 16.00% in postmenopausal healthy controls respectively (?2 = 8.96, p = 0.011). Taq l (rs731236) polymorphism genotype frequencies were TT 40.00%, Tt 56.00% and tt 4.00% postmenopausal osteoporotic women and TT 4.00%, Tt 64.00% and tt 32.00% in postmenopausal healthy women (?2 = 25.88, p = 0.000002). The Odds ratio for ApaI (rs7975232) polymorphism was 2.8148 with 95 % CI: 1.1207to7.0696 and a significance level p = 0.0276 and for TaqI (rs731236) polymorphism was 3.7778 with 95 % CI: 1.6496to8.6514 and a significance level p = 0.0017. Our study confirmed that the odds of getting osteoporosis were 2.8 fold greater when the A allele is inherited for ApaI (rs7975232) polymorphism and 3.7 fold greater when the T allele is inherited for TaqI (rs731236). In conclusion our study has proved to a certain extent that the VDR gene polymorphisms ApaI (rs7975232) and TaqI (rs731236) might be important genetic markers in determining postmenopausal risk of osteoporosis in a population of south Indian women.
Published Version
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