Genetic polymorphism of vitamin D receptor gene affects the phenotype of PCOS |
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Authors: | Azita Zadeh-Vakili Fahimeh Ramezani Tehrani Maryam Sadat Daneshpour Maryam Zarkesh Navid Saadat Fereidoun Azizi |
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Institution: | 1. Cellular and Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran;2. Reproductive Endocrinology Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran;3. Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran;4. Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran |
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Abstract: | AimsPolycystic ovary syndrome (PCOS), a common female endocrine disorder, represents a wide range of clinical manifestations and disease severity. Recent studies suggest an association between gene variants involved in vitamin D metabolism and common metabolic disturbances in PCOS. We aimed to examine the association of vitamin D receptor (VDR) gene variant with PCOS susceptibility and the severity of disease phenotype.MethodsAll participants, including 260 PCOS women (cases) and 221 normoovulatory women (controls), were recruited from a reproductive endocrinology clinic. Cases were divided into the severe and mild PCOS phenotype groups, based on their clinical and paraclinical features. An adenosine to guanine single nucleotide polymorphism of VDR gene (rs757343) was genotyped using the PCR–RFLP method.ResultsDistributions of genotypes and alleles did not differ between cases and controls, indicating that this SNP is not associated with increased risk for PCOS. However, this SNP was found to be associated with the severity of the PCOS phenotype. In particular, presence of the A allele is associated with a 74% increased risk of severe phenotype development (OR, 1.74; 95% CI, 1.07–2.82).ConclusionThe genetic variant of the VDR was found to have an association with severity of clinical features of PCOS, but none with disease risk. |
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Keywords: | PCOS polycystic ovary syndrome VDR vitamin D receptor SNP single nucleotide polymorphisms PCR&ndash RFLP polymerase chain reaction&ndash restriction-fragment length polymorphism OR odds ratio CI confidence interval IR insulin resistance A adenosine C cytidine G guanosine T thymidine NIH national institute of health FSH follicle-stimulating hormone LH luteinizing hormone SHBG sex hormone binding globin tTes total testosterone A4 androstenedione DHEA-S Dehydroepiandrosterone sulfate BMI body mass index HWE Hardy&ndash Weinberg equilibrium df degree of freedom |
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