Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent

Kenneth I. Aston, Csilla Krausz, Ilaria Laface, E. Ruiz-Castané, Douglas T. Carrell

Research output: Contribution to journalArticlepeer-review

Abstract

Background 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. Methods 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. Result SSeveral 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. Conclusions 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.

Original languageEnglish
Pages (from-to)1383-1397
Number of pages15
JournalHuman Reproduction
Volume25
Issue number6
DOIs
Publication statusPublished - Jun 2010

Keywords

  • Azoospermia
  • Gene mutations
  • Male infertility
  • Oligozoospermia
  • SNP

ASJC Scopus subject areas

  • Rehabilitation
  • Obstetrics and Gynaecology
  • Reproductive Medicine

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