Association of TCF7L2 Gene Variant (rs12255372) with Polycystic Ovary Syndrome and its Effect Modification of the Disease Phenotype.

IF 0.9 4区 环境科学与生态学 Q4 BIODIVERSITY CONSERVATION Conservation Genetics Resources Pub Date : 2024-07-01 Epub Date: 2023-01-30 DOI:10.1007/s12291-023-01115-6
Rabiya Rashid, Idrees A Shah, Mudassir Jan Makhdoomi, Aafia Rashid, Meena Godha, Bashir A Ganai, Mohd Ashraf Ganie
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Abstract

Polycystic ovary syndrome (PCOS) and type-2 diabetes mellitus (T2DM) share common genetic features. Transcription factor 7-like-2 (TCF7L2) is consistently studied T2DM susceptibility locus. However, limited studies on TCF7L2 have failed to demonstrate any link with the PCOS risk. Therefore, we investigated the association of TCF7L2 polymorphic variant (rs12255372) with the PCOS risk. We recruited 120 PCOS cases, diagnosed as per Rotterdam 2003 criteria, and an equal number of age-matched controls. Besides a detailed clinical assessment, subjects underwent biochemical and hormonal profiling. Genotyping for rs12255372 was done by PCR-RFLP. Conditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (95%CIs) of genotype-phenotype correlations. The PCOS cases reported fewer menstrual cycles per year and exhibited signs of hyperandrogenism. The heterozygous genotype of rs12255372 was strongly associated with the PCOS risk (OR = 2.00; 95%CI: 1.07-3.76). Unlike controls, only 3 cases harbored TT genotype, and the PCOS risk persisted in the dominant model (GT + TT) as well. Moreover, we found a synergistic effect modification by the variant genotype in the subjects who had family histories of T2DM, hirsutism, or menstrual irregularities. We report a significant association of the TCF7L2 polymorphic variant rs12255372 with the PCOS risk.

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TCF7L2基因变异(rs12255372)与多囊卵巢综合征的关系及其对疾病表型的改变作用
多囊卵巢综合征(PCOS)和 2 型糖尿病(T2DM)具有共同的遗传特征。转录因子 7-like-2 (TCF7L2) 一直是研究的 T2DM 易感基因位点。然而,有关 TCF7L2 的有限研究未能证明其与多囊卵巢综合症风险有任何关联。因此,我们研究了 TCF7L2 多态性变异(rs12255372)与 PCOS 风险的关系。我们招募了 120 例根据 2003 年鹿特丹标准确诊的多囊卵巢综合症病例和同等数量的年龄匹配对照组。除了详细的临床评估外,受试者还接受了生化和激素分析。通过 PCR-RFLP 对 rs12255372 进行了基因分型。条件逻辑回归用于计算基因型与表型相关性的几率比(ORs)和95%置信区间(95%CIs)。多囊卵巢综合征病例报告的每年月经周期较少,并表现出雄激素过多的症状。rs12255372 的杂合基因型与多囊卵巢综合症风险密切相关(OR = 2.00;95%CI:1.07-3.76)。与对照组不同的是,只有 3 个病例携带 TT 基因型,而且 PCOS 风险在显性模型(GT + TT)中也持续存在。此外,我们还发现,在有 T2DM、多毛症或月经不调家族史的受试者中,变异基因型会产生协同效应。我们报告了 TCF7L2 多态变异 rs12255372 与多囊卵巢综合症风险的重要关联。
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来源期刊
Conservation Genetics Resources
Conservation Genetics Resources BIODIVERSITY CONSERVATION-GENETICS & HEREDITY
CiteScore
2.90
自引率
9.10%
发文量
42
审稿时长
3-6 weeks
期刊介绍: Conservation Genetics Resources promotes the conservation of genetic diversity and advances the study of conservation genetics by providing rapid publication of technical papers and reviews on methodological innovations or improvements, computer programs, and genomic resources, as well as on the practical application of these resources towards the development of effective conservation policy and practice.
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