Association of XRCC4 and XRCC5 gene polymorphisms with polycystic ovarian syndrome in an Indian cohort.

Personalized medicine Pub Date : 2026-02-01 Epub Date: 2026-02-23 DOI:10.1080/17410541.2026.2634607

Nikitha Sridhar, Gayathri Venkatakrishnan, Jiby Jolly Benjamin, Padmavathi Ramaswamy, Sabari Krishnan Baijumon Bindhu, Sharon Benita Antony, Rahul Rajan Mathews Tholath, Teena Koshy

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Abstract

Aim: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in Indian women, with prevalence influenced by ethnicity, lifestyle, and associated metabolic conditions. Given the emerging link between genomic instability and PCOS, this study aimed to assess the association of polymorphisms in two DNA repair genes, XRCC4 rs28360071 and XRCC5 rs6147172, with PCOS susceptibility in an Indian cohort.

Methods: A case-control study was conducted involving 100 women with clinically diagnosed PCOS and 100 healthy controls. Genotyping for XRCC4 intron 3 indel and XRCC5 promoter VNTR was performed using polymerase chain reaction (PCR). Genotype and allele frequencies were compared between groups, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess risk. Statistical significance was set at p < 0.05.

Results: After Bonferroni correction, the XRCC4 D/D genotype showed a strong increased risk with PCOS (OR = 25.3 [p < 0.001]).

Conclusion: XRCC4 polymorphism may influence PCOS susceptibility in Indian women.

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印度人群中XRCC4和XRCC5基因多态性与多囊卵巢综合征的相关性

目的：多囊卵巢综合征（PCOS）是印度妇女常见的内分泌紊乱，其患病率受种族、生活方式和相关代谢状况的影响。鉴于基因组不稳定性与PCOS之间的联系，本研究旨在评估两个DNA修复基因XRCC4 rs28360071和XRCC5 rs6147172多态性与印度队列中PCOS易感性的关系。方法：对100名临床诊断为多囊卵巢综合征的女性和100名健康对照者进行病例对照研究。采用聚合酶链反应（PCR）对XRCC4内含子3 indel和XRCC5启动子VNTR进行基因分型。比较两组间的基因型和等位基因频率，并计算95%置信区间（ci）的优势比（ORs）来评估风险。结果：经Bonferroni校正后，XRCC4 D/D基因型显示PCOS的风险显著增加（OR = 25.3） [p]结论：XRCC4多态性可能影响印度女性PCOS的易感性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Personalized medicine

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