Yu J, Wu H, Wen Y, Liu Y, Zhou T, Ni B, Lin Y, Dong J, Zhou Z, Hu Z, Guo X, Sha J, Tong C. Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in Drosophila. Hum Mol Genet. 2015 Mar 1;24(5):1493-503. PMID: 25361961.
From the abstract: "Non-obstructive azoospermia (NOA) is a complex and severe condition ... In a genome-wide association
study (GWAS) of NOA in Chinese men, few loci reached genome-wide
significance ...
Single nucleotide polymorphisms (SNPs) without genome-wide significance
may also indicate genes that are essential for fertility, and multiple
stage validation can lead to false-negative results. To perform
large-scale functional screening of the genes surrounding these SNPs, we
used in vivo RNA interference (RNAi) in Drosophila ... 7 (31.8%) of the 22 analyzed orthologous Drosophila
genes were essential for male fertility. ...
Our study thus demonstrates that SNPs without genome-wide significance
in GWAS may also provide clues to disease-related genes and therefore
warrant functional analysis."
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