Abstract
BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS).MethodsA group of 191 women with PCOS (Rotterdam criteria) and 100 non-hirsute controls with regular ovulatory cycles were genotyped for all polymorphisms by real-time PCR, with allelic discrimination assays. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement.ResultsWomen with PCOS were younger and had significantly higher BMI and total testosterone levels than controls (p < 0.05). The frequency of MetS in PCOS and controls was 26.5% and 4.8% respectively. The CC genotype of Apa-I entailed higher risk of MetS in PCOS (OR: 2.133; 95% CI 1.020–4.464, p = 0.042), and was associated with higher systolic blood pressure (p = 0.009), total cholesterol (p = 0.040), and LDL-cholesterol (p = 0.038) in both PCOS and control groups (two-way ANOVA). The frequencies of VDR haplotypes were similar in PCOS and control women.ConclusionsThe present results suggest that the Apa-I variant in VDR gene may be associated with MetS in southern Brazilian women with PCOS, and with blood pressure, total cholesterol, and LDL-c in women with and without PCOS.
Highlights
Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors
vitamin D receptor (VDR) gene polymorphisms All the three studied polymorphisms were in HardyWeinberg equilibrium, and over 98% (n = 287) of the sample were effectively genotyped
In the present study, despite the similar vitamin D levels detected in PCOS and control participants, the CC genotype of Apa-I Single nucleotide polymorphism (SNP) of the VDR gene was related to higher risk of metabolic syndrome (MetS) in PCOS participants
Summary
Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS). The aims of the present study were to assess the genotypic and allelic distribution of Bsm-I (rs1544410), Apa-I (rs7975232) and Taq-I (rs731236) polymorphisms of the VDR gene and to determine whether these gene variants are associated with 25hydroxyvitamin D [25(OH)D] levels and with metabolic abnormalities, including MetS, in women with PCOS in comparison to non-hirsute, ovulatory control women VDR gene polymorphism has been associated with total testosterone in PCOS and PP populations [8, 13], with estradiol levels in PP girls [8], and with metabolic abnormalities in different non-PCOS populations [16,17,18,19,20,21,22,23].
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