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Non-obstructive azoospermia (NOA) is a complex and severe condition whose etiology remains largely unknown. In a genome-wide association study (GWAS) of NOA in Chinese men, few loci reached genome-wide significance, although this might be a result of genetic heterogeneity. 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 , which has a short maturation cycle and is suitable for high-throughput analysis. The analysis found that 7 (31.8%) of the 22 analyzed orthologous  Drosophila  genes were essential for male fertility. These genes corresponded to nine loci. Of these genes,  leukocyte-antigen-related-like  ( Lar ) is primarily required in germ cells to sustain spermatogenesis, whereas  CG12404 ,  doublesex-Mab-related 11E  ( dmrt11E ),  CG6769 ,  estrogen-related receptor  ( ERR ) and  sulfateless  ( sfl ) function in somatic cells. Interestingly,  ERR  and  sfl  are also required for testis morphogenesis. 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.

human molecular genetics

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