Andrology and IVF Laboratories, University of Utah School of Medicine, Salt Lake City, UT, USA.
Hum Reprod. 2010 Jun;25(6):1383-97. doi: 10.1093/humrep/deq081. Epub 2010 Apr 8.
In spite of tremendous efforts by a number of groups, the search for single nucleotide polymorphisms (SNPs) strongly associated with male factor infertility by means of gene re-sequencing studies has yielded few likely candidates. A recent pilot, genome-wide SNP association study (GWAS) identified a list of SNPs associated with oligozoospermia and azoospermia. This is an expanded follow-up study of the SNPs identified by the GWAS as well as other SNPs from previously published gene re-sequencing studies.
On the basis of the pilot GWAS and SNPs with published associations with male infertility, 172 SNPs were genotyped in men with idiopathic azoospermia or oligozoospermia using the Illumina BeadXpress platform.
Several SNPs were identified or confirmed to be significantly associated with oligozoospermia and/or azoospermia. More importantly, this follow-up study indicates that, at least in Caucasian men, no single common SNP accounts for a significant proportion of spermatogenic failure cases.
The associations reported in this study are promising, but much larger genome-wide studies will be necessary to confidently validate these SNPs and identify novel SNPs associated with male infertility.
尽管许多研究团队付出了巨大努力，但通过基因重测序研究寻找与男性因素不育强烈相关的单核苷酸多态性（SNP）的工作，仅发现了少数可能的候选者。最近的一项全基因组 SNP 关联研究（GWAS）确定了一组与少精子症和无精子症相关的 SNP。这是对 GWAS 确定的 SNP 以及之前发表的基因重测序研究中的其他 SNP 的扩展后续研究。
基于初步的 GWAS 和已发表的与男性不育相关的 SNP，使用 Illumina BeadXpress 平台，对特发性无精子症或少精子症患者的 172 个 SNP 进行基因分型。
确定或证实了几个 SNP 与少精子症和/或无精子症显著相关。更重要的是，这项后续研究表明，至少在白种男性中，没有一个常见的 SNP 能解释精子发生失败病例的很大比例。
本研究报告的关联是有希望的，但需要进行更大规模的全基因组研究，以自信地验证这些 SNP 并确定与男性不育相关的新 SNP。
