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Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia
Nov 2009 - J Androl
Kenneth I. Aston, Douglas T. Carrell
Male infertility affects a large proportion of the population. In spite of the magnitude of the problem and the considerable research effort that has been made to understand its causes, a large proportion of male infertility cases remain idiopathic in nature. This pilot genome-wide association study employed genotyping microarray technology to interrogate over 370,000 single-nucleotide polymorphisms (SNPs) in men with azoospermia and severe oligozoospermia, along with normozoospermic controls, in an effort to discover novel genetic variants significantly associated with male infertility. <!--more-->We found 20 SNPs significantly associated with azoospermia or oligozoospermia (P value for association of <1 x 10(-5)). Using a gene-centric approach evaluating SNPs associated with genes of known fertility function, we found 1 additional SNP with P < 1 x 10(-4). Although additional studies with larger numbers of samples will be required to validate these results and to identify causal variants, this study represents an important first step in applying genome-wide approaches to identify the genetic causes of male infertility.