Whole-exome sequencing analysis of human semen quality in Russian multi-ethnic population

Global trend towards the reduction of human spermatogenic function observed in many countries, including Russia, raised the problem of extensive screening and monitoring of male fertility and elucidation of its genetic and ethnic mechanisms. Recently the whole-exome sequencing (WES) was developed as a powerful tool for genetic analysis of complex traits. We present here the first Russian WES study for identification of new genes associated with semen quality. The experimental 3x2 design of the WES study was based on the analysis of 157 samples including three ethnic groups - Slavs (n=59), Buryats (n=49) and Yakuts (n=49), and two different semen quality groups - pathozoospermia (n=95) and normospermia (n=62). Additionally, our WES study group was negative for complete AZF microdeletions of Y-chromosome. The normospermia group included men with normal sperm parameters in accordance with the WHO recommended reference limit. The pathozoospermia group included men with impaired semen quality, namely with any combined parameters of sperm concentration <15x10^6 /ml, and/or progressive motility <32%, and/or normal morphology <4%. The whole-exome sequencing was performed for all 157 samples.