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. 2026 Feb 23:1-6.
doi: 10.1080/17410541.2026.2634607. Online ahead of print.

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

Nikitha Sridhar  1 , Gayathri Venkatakrishnan  1 , Jiby Jolly Benjamin  2 , Padmavathi Ramaswamy  3 , Sabari Krishnan Baijumon Bindhu  1 , Sharon Benita Antony  1 , Rahul Rajan Mathews Tholath  4 , Teena Koshy  1
Affiliations

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

Nikitha Sridhar et al. Per Med. .

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.

Keywords: DNA repair; X-ray repair cross-complementing (XRCC) protein; gene polymorphism; polycystic ovary syndrome; reproductive health.

Plain language summary

Polycystic ovary syndrome (PCOS) is a common condition affecting many Indian women. In this study, we examined two variations in X-ray Repair Cross-Complementing (XRCC) genes (XRCC4 rs28360071 and XRCC5 rs6147172) to see if they are linked to PCOS in Indian women. We found that women carrying the homozygous deletion type of the XRCC4 gene had up to 25 times higher risk of developing PCOS compared to those with the normal insertion type. These findings suggest that variations in XRCC4 may influence PCOS risk, although larger studies are needed to confirm these results.

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