FSHR Gene Polymorphisms Causes Male Infertility

Prior studies suggested sperm with damaged DNA permits fertilization but may lead to failure of embryo implantation following blastocyst formation. Quantitative correlations between DNA damage and risk of implantation failure have, however, so far not been performed. The aim of this study was to investigate two FSHR gene polymorphisms G919A (Ala307Thr) and A2039G (Asn680Ser) in Eastern Ukrainian Caucasian men with abnormally low fertility. The molecular genetic analysis was performed by real-time PCR, with the level of DNA fragmentation measured by the sperm chromatin dispersion (SCD) method. The relationship between DNA fragmentation in sperm and these genetic polymorphisms was estimated. Compared to homozygotes, the risk of high-level DNA fragmentation (>20%) increased in men up to age 35 years 16-fold for heterozygotes GA of polymorphic variant G919A, 28-fold for homozygotes AA of polymorphic variant G919A; and 16-fold for heterozygotes GG of polymorphic variant A2039G. A statistically significant positive correlation between number of alternative alleles of the FSHR gene in genotype and degree of DNA fragmentation is proved (rs = 0.70, P < 0.01).