Alsobaie Sarah, Alageel Arwa A, Ishfaq Tahira, Ali Khan Imran, Alharbi Khalid Khalaf
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.
Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh 11472, Saudi Arabia.
Diagnostics (Basel). 2023 Oct 14;13(20):3214. doi: 10.3390/diagnostics13203214.
Polycystic ovary syndrome is a complex disorder defined by the Rotterdam criteria. Insulin resistance is a common factor for the development of type 2 diabetes mellitus among women with PCOS. The gene has been identified as a T2DM gene by genome-wide association studies in the rs8192675 SNP. This study aimed to investigate the rs8192675 SNP in women diagnosed with PCOS on a molecular level and further for T2DM development in the Saudi women. In this case-control study, 100 PCOS women and 100 healthy controls were selected. Among 100 PCOS women, 28 women showed T2DM development. Genotyping for rs8192675 SNP was performed by PCR-RFLP analysis. Additionally, Sanger sequencing was performed to validate the RFLP analysis. The obtained data were used for a statistical analysis for the genotype and allele frequencies, logistic regression, and ANOVA analysis. The clinical data confirmed the positive association between FBG, FI, FSH, TT, TC, HDLc, LDLc, and family histories ( < 0.05). HWE analysis was associated in both the PCOS cases and the control individuals. Genotype and allele frequencies were associated in PCOS women and strongly associated with women with PCOS who developed T2DM ( < 0.05). No association was found in the logistic regression model or ANOVA analysis studied in women with PCOS ( > 0.05). A strong association was observed between the rs8192675 SNP and women with PCOS who developed T2DM using ANOVA analysis ( < 0.05). This study confirms that the rs8192675 SNP is associated with women with PCOS and strongly associated with women with PCOS with developed T2DM in Saudi Arabia.
多囊卵巢综合征是一种由鹿特丹标准定义的复杂疾病。胰岛素抵抗是多囊卵巢综合征女性发生2型糖尿病的常见因素。通过全基因组关联研究，该基因在rs8192675单核苷酸多态性中被鉴定为2型糖尿病基因。本研究旨在从分子水平上调查被诊断为多囊卵巢综合征的女性中的rs8192675单核苷酸多态性，并进一步研究沙特女性患2型糖尿病的情况。在这项病例对照研究中，选择了100名多囊卵巢综合征女性和100名健康对照。在100名多囊卵巢综合征女性中，有28名女性出现了2型糖尿病。通过PCR-RFLP分析对rs8192675单核苷酸多态性进行基因分型。此外，进行桑格测序以验证RFLP分析。所获得的数据用于对基因型和等位基因频率、逻辑回归和方差分析进行统计分析。临床数据证实空腹血糖、空腹胰岛素、促卵泡生成素、总睾酮、总胆固醇、高密度脂蛋白胆固醇、低密度脂蛋白胆固醇和家族史之间存在正相关（<0.05）。哈迪-温伯格平衡分析在多囊卵巢综合征病例组和对照组个体中均有相关性。基因型和等位基因频率在多囊卵巢综合征女性中相关，并且与发生2型糖尿病的多囊卵巢综合征女性密切相关（<0.05）。在多囊卵巢综合征女性的逻辑回归模型或方差分析中未发现相关性（>0.05）。使用方差分析观察到rs8192675单核苷酸多态性与发生2型糖尿病的多囊卵巢综合征女性之间存在强烈相关性（<0.05）。本研究证实，rs8192675单核苷酸多态性与沙特阿拉伯的多囊卵巢综合征女性相关，并且与发生2型糖尿病的多囊卵巢综合征女性密切相关。
