Department of Molecular & Human Genetics, Banaras Hindu University, Varanasi, 221005, India.
Division of Endocrinology, Central Drug Research Institute, Lucknow, UP, India.
J Assist Reprod Genet. 2019 Jan;36(1):79-90. doi: 10.1007/s10815-018-1339-6. Epub 2018 Nov 3.
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.
我们研究了 DNA 修复途径中 ERCC1、ERCC2 和 XRCC1 基因的取代是否与非阻塞性无精子症和男性不育有关。
共对 548 名无精子症不育男性和 410 名生育能力正常的男性进行 XRCC1 399A>G、280G>A 和 ERCC1 C>3'UTR A 以及 541 名无精子症不育男性和 416 名生育能力正常的男性进行 ERCC2 751A>C 的基因分型，使用 iPLEX Gold 检测。对 XRCC1 399A>G（1022 例病例和 1004 例对照）、ERCC1 C>3'UTR A（879 例病例和 1059 例对照）和 ERCC2 751A>C（914 例病例和 850 例对照）多态性进行荟萃分析，以定量评估这些多态性与不育风险之间的关联意义。
使用共显性模型发现 ERCC2 751A>C SNP 与男性不育之间存在统计学显著关联（p=0.03）。荟萃分析的结果表明，与男性不育风险之间缺乏相关性，这可能是由于来自不同种族人群的研究合并所致。由于研究数量有限，无法进行不同种族的分层分析。
总之，ERCC2 中的 751A>C SNP 的 AA 基因型与男性不育的风险增加相关，可能导致印度男性无精子症和男性不育的风险增加。
