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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Assessment of Vitamin D Receptor Gene Polymorphism in Iraqi Women with Polycystic Ovary Syndrome
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Assessment of Vitamin D Receptor Gene Polymorphism in Iraqi Women with Polycystic Ovary Syndrome

机译：伊拉克多囊卵巢综合征女性维生素D受体基因多态性的评估

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Polycystic Ovary Syndrome (PCOS) is the most common hormonal disorder in women that occurs mainly in the reproductive age. It is suggested to be highly complex and heterogeneous disorder with an uncertain cause. Genes included in vitamin D metabolism have been assumed as candidate genes for the PCOS susceptibility. Vitamin D receptor gene polymorphisms are suggested to have an influential role in insulin metabolism in women with PCOS.Aim: To investigate the possible association between Cdx2 (G/A) Single Nucleotide Polymorphism (SNP) of vitamin D receptor gene and the risk of polycystic ovary syndrome.Materials and Methods: The present Case-control study involved 88 women from 18 to 34 years of age in which Group 1 consisted of 45 newly diagnosed women with PCOS while Group 2 consisted of 43 women without PCOS that acted as controls. DNA samples were amplified and analysed for the Cdx2 (G/A) SNP of vitamin D receptor gene. Genotypic frequency distribution of Cdx2 polymorphism of vitamin D receptor gene was calculated in women with PCOS and controls. From each serum sample 25-hydroxy vitamin D, calcium, LH, FSH, free testosterone, insulin, and glucose was calculated according to AA, GA, and GG genotypic distribution.Results: There was no significant difference in genotypic distributions of Cdx2 polymorphism of vitamin D receptor gene between patients and controls. In addition, the results of patients group were found to be significantly lower for fasting serum glucose (p=0.02), insulin (p=0.01), and Homeostatic Model Assessment-Insulin Resistance (HOMA-IR) (p<0.001) inindividuals with AA genotype than individual with GA and GG genotype. While, significantly higher levels of LH (p=0.002) and LH/FSH ratio (p=0.003) inindividual with GG genotype than individual with GA and AA genotype, and no significant difference in mean value of FSH (p=0.148) and free testosterone (p=0.091) between GG, GA, and AA carriers. Likewise, the results were observed significantly lower levels for serum 25-hydroxy vitamin D in GG carriers than GA and AA carriers for both patients (p<0.001) and controls (p<0.001), with no significant difference in mean value of calcium levels between GG, GA and AA carriers for patients (p=0.949) and controls (p=0.46).Conclusion: Cdx2 polymorphism of vitamin D receptor gene has an association with severity of clinical features in PCOS; however, not with risk of development of the disease meaning that genetic variation is not directly linked to risk of this syndrome but may indirectly affect disease development via regulation of vitamin D levels.
机译：多囊卵巢综合症（PCOS）是女性最常见的激素失调，主要发生在生殖年龄。建议是高度复杂且异质的疾病，其病因尚不确定。维生素D代谢中包含的基因被假定为PCOS易感性的候选基因。建议维生素D受体基因多态性在PCOS妇女的胰岛素代谢中具有影响作用。目的：研究维生素D受体基因Cdx2（G / A）单核苷酸多态性（SNP）与维生素C受体之间的可能联系。材料和方法：本病例对照研究涉及88名18至34岁的女性，其中第1组由45名新诊断为PCOS的妇女组成，而第2组由43名无PCOS的妇女组成充当控件。扩增DNA样品并分析维生素D受体基因的Cdx2（G / A）SNP。计算患有PCOS和对照的妇女的维生素D受体基因Cdx2多态性的基因型频率分布。根据AA，GA和GG基因型分布，从每个血清样本中计算25-羟基维生素D，钙，LH，FSH，游离睾丸激素，胰岛素和葡萄糖。结果：患者和对照之间维生素D受体基因的Cdx2多态性。此外，发现患者组的空腹血糖（p = 0.02），胰岛素（p = 0.01）和稳态模型评估-胰岛素抵抗（HOMA-IR）（p <0.001）显着降低。 AA基因型高于个体与GA和GG基因型。而GG基因型个体的LH（p = 0.002）和LH / FSH比水平（p = 0.003）显着高于GA和AA基因型个体，且FSH平均值（p = 0.148）和游离FH均无显着差异。 GG，GA和AA携带者之间的睾丸激素（p = 0.091）。同样，对于患者（p <0.001）和对照组（p <0.001），GG携带者的血清25-羟基维生素D水平显着低于GA和AA携带者，钙水平平均值无显着差异结论：维生素D受体基因的Cdx2多态性与PCOS临床特征的严重程度有关;在患者（p = 0.949）和对照组（p = 0.46）的GG，GA和AA携带者之间。但是，这种疾病没有发展的风险，这意味着遗传变异与该综合征的风险没有直接联系，而是可以通过调节维生素D水平间接影响疾病的发展。

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