Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 1, pp 79–90 | Cite as

SNPs in ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway and risk of male infertility in the Asian populations: association study, meta-analysis, and trial sequential analysis

  • Vertika Singh
  • Sandeep Kumar Bansal
  • D. V. S. Sudhakar
  • Neelabh
  • Arijit Chakraborty
  • Sameer Trivedi
  • Gopal Gupta
  • Kumarasamy Thangaraj
  • Singh RajenderEmail author
  • Kiran SinghEmail author



We investigated if substitutions in the ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.


A total of 548 azoospermic infertile males and 410 fertile controls were genotyped for XRCC1 399A > G, 280G > A, and ERCC1 C > A 3′ UTR and 541 azoospermic infertile males and 416 fertile controls were genotyped for ERCC2 751A > C using iPLEX Gold Assay. Meta-analyses were performed on XRCC1 399A > G (1022 cases and 1004 controls), ERCC1 C > A 3′ UTR (879 cases and 1059 controls), and ERCC2 751A > C (914 cases and 850 controls) polymorphisms to quantitatively estimate the significance of the association between these polymorphisms and the risk of infertility.


Statistically significant association between ERCC2 751A > C SNP and male infertility was found using the codominant model (p = 0.03). Results of meta-analysis suggested a lack of correlation with male infertility risk, which could be due to pooling of studies from different ethnic populations. Due to limited the number of studies, a stratified analysis for different ethnic groups could not be performed.

Conclusion (s)

In conclusion, AA genotype of 751A > C SNP in ERCC2 correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.


DNA repair Polymorphisms Infertility Spermatogenesis 



The authors thank the patients for providing blood samples.

Funding information

This work was supported by the Council of Scientific and Industrial Research (CSIR) with grant number BSC0101 awarded to Rajender Singh and the University Grant Commission (UGC), Govt. of India grant (UGC Approval letter No: F 42-47/2013) awarded to Kiran Singh. Vertika Singh was provided SRF by the Council of Scientific and Industrial Research (CSIR), Govt. of India.

Compliance with ethical standards

This study was approved by the Institutional Human Ethics Committee of the Institute of Science, Banaras Hindu University, Varanasi approved this study (Approval letter No. Dean/2011-12/119).

Informed consent

Informed consent was obtained from all individual participants included in the study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee.

Competing interests

The authors declare that they have no competing interests.

Supplementary material

10815_2018_1339_Fig5_ESM.png (114 kb)
Supplementary figure 1

Representative gel picture showing absence of Y chromosome microdeletion in patients for eleven sets of sequence-tagged site (STS) markers (STSs: sY83, sY84, sY69, sY117, sY152, sY255, sY254, sY157, sY158, sY159, sY160). M represents molecular weight marker. (PNG 114 kb)

10815_2018_1339_MOESM1_ESM.tif (1.1 mb)
High resolution image (TIF 1095 kb)
10815_2018_1339_MOESM2_ESM.xlsx (35 kb)
ESM 1 (XLSX 34 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Molecular & Human GeneticsBanaras Hindu UniversityVaranasiIndia
  2. 2.Division of EndocrinologyCentral Drug Research InstituteLucknowIndia
  3. 3.CSIR-Centre for Cellular and Molecular Biology (CCMB)HyderabadIndia
  4. 4.Department of Zoology (MMV)Banaras Hindu UniversityVaranasiIndia
  5. 5.Department of Urology, Institute of Medical SciencesBanaras Hindu UniversityVaranasiIndia

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