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- Title
Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
- Authors
Aston, Kenneth I.; Krausz, Csilla; Laface, Ilaria; Ruiz-Castané, E.; Carrell, Douglas T.; Ruiz-Castané, E
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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.<bold>Conclusions: </bold>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.
- Subjects
GENETIC polymorphisms; MALE infertility; OLIGOSPERMIA; NUCLEOTIDE sequence; GENETIC mutation; GENETICS; COMPARATIVE studies; DISEASE susceptibility; GENES; GENETIC techniques; INFERTILITY; RESEARCH methodology; MEDICAL cooperation; RESEARCH; RESEARCH funding; WHITE people; EVALUATION research; HAPLOTYPES; SPERM count; GENOTYPES
- Publication
Human Reproduction, 2010, Vol 25, Issue 6, p1383
- ISSN
0268-1161
- Publication type
journal article
- DOI
10.1093/humrep/deq081