Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent
Por:
Aston, KI, Krausz, C, Laface, I, Ruiz-Castane, E, Carrell, DT
Publicada:
1 jun 2010
Resumen:
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 (R) platform.
Results: 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.
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.
Filiaciones:
Aston, KI:
Univ Utah, Sch Med, Androl & IVF Labs, Salt Lake City, UT 84112 USA
Krausz, C:
Univ Florence, Dept Clin Physiopathol, Androl Unit, Florence, Italy
Fundacio Puigvert, Androl Serv, Barcelona, Spain
Laface, I:
Univ Florence, Dept Clin Physiopathol, Androl Unit, Florence, Italy
Ruiz-Castane, E:
Fundacio Puigvert, Androl Serv, Barcelona, Spain
Carrell, DT:
Univ Utah, Sch Med, Androl & IVF Labs, Salt Lake City, UT 84112 USA
Univ Utah, Sch Med, Dept Obstet & Gynecol, Dept Surg, Salt Lake City, UT 84132 USA
Univ Utah, Sch Med, Dept Physiol, Salt Lake City, UT 84108 USA
Bronze, Green Published
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