Rashid Rabiya, Shah Idrees A, Asrar Mir M, Godha Meena, Ganai Bashir A, Ganie Mohd Ashraf
Department of Life Sciences, Jaipur National University, Jaipur, India.
Multidisciplinary Research Unit, Department of Clinical Research, SKIMS, Srinagar, India.
J Diabetes Metab Disord. 2022 May 17;21(1):769-776. doi: 10.1007/s40200-022-01050-y. eCollection 2022 Jun.
mediated Wnt signaling cascade regulates glucose homeostasis by orchestrating expression, processing, and hepatic clearance of insulin. Type 2 diabetes mellitus (T2DM) and polycystic ovary syndrome (PCOS) significantly overlap in pathophysiological features with insulin resistance as a central driver. While is the most potent T2DM locus, studies on the association of with PCOS are limited and inconclusive. Therefore, in addition to expression profiling, the association of polymorphic variant rs7903146 with PCOS was evaluated.
Using Rotterdam-2003 criteria for the diagnosis, 120 PCOS cases, and 120 age-matched controls were recruited. Subjects underwent clinical, biochemical, and hormonal assessment, followed by genotyping for rs7903146, carried out by PCR-RFLP and expression profiling by qRT-PCR. Genotype-phenotype correlation analysis was performed to evaluate any such associations. Odds ratios (ORs) with 95% confidence intervals (95% CIs) were computed by conditional logistic regression.
Higher odds of developing PCOS were observed in the women having a family history (FH) of either T2DM (OR = 3.86, 95% CI:1.90 - 7.83), hirsutism (OR = 4.74. 95%CI: 1.91 - 17.21) or menstrual irregularities (MI) (OR = 3.07, 95%CI: 1.61 - 8.54). The genotypes of rs7903146 did not confer any risk for developing PCOS (OR = 0.46;95%CI: 0.15 - 2.03). However, the elevated risk was seen in the subjects who harbored the variant allele and had FH of either T2DM (OR = 6.71; 95%CI: 1.89 - 23.78) or MI (OR = 9.71; 95% CI:1.89 - 23.78).
polymorphic variant rs7903146 is not independently linked to PCOS risk, but modulates the risk in the subjects having a family history of either T2DM or MI.
The online version contains supplementary material available at 10.1007/s40200-022-01050-y.
介导的Wnt信号级联通过协调胰岛素的表达、加工和肝脏清除来调节葡萄糖稳态。2型糖尿病（T2DM）和多囊卵巢综合征（PCOS）在病理生理特征上有显著重叠，胰岛素抵抗是主要驱动因素。虽然[此处原文缺失相关基因信息]是最显著的T2DM位点，但关于[此处原文缺失相关基因信息]与PCOS关联的研究有限且尚无定论。因此，除了表达谱分析外，还评估了[此处原文缺失相关基因信息]多态性变体rs7903146与PCOS的关联。
采用鹿特丹2003诊断标准，招募了120例PCOS患者和120例年龄匹配的对照。受试者接受临床、生化和激素评估，随后通过PCR-RFLP对rs7903146进行基因分型，并通过qRT-PCR进行[此处原文缺失相关基因信息]表达谱分析。进行基因型-表型相关性分析以评估任何此类关联。通过条件逻辑回归计算95%置信区间（95%CI）的比值比（OR）。
有T2DM家族史（FH）（OR = 3.86，95%CI：1.90 - 7.83）、多毛症（OR = 4.74，95%CI：1.91 - 17.21）或月经不规律（MI）（OR = 3.07，95%CI：1.61 - 8.54）的女性患PCOS的几率更高。rs7903146的基因型不会增加患PCOS的风险（OR = 0.46；95%CI：0.15 - 2.03）。然而，携带变异等位基因且有T2DM家族史（OR = ？；95%CI：1.89 - 23.78）或MI家族史（OR = 9.71；95%CI：1.89 - 23.78）的受试者风险升高。
多态性变体rs7903146与PCOS风险无独立关联，但可调节有T2DM或MI家族史的受试者的风险。
在线版本包含可在10.1007/s40200-022-01050-y获取的补充材料。
原文中部分关键基因信息缺失，翻译时保留了原文的缺失状态。同时，部分OR值原文缺失具体数字。
