Halit Akbas1, Mahmut Balkan2, Mahir Binici2, Abdullah Gedik3. 1. Department of Medical Biology and Genetics, Faculty of Medicine, Harran University, Sanliurfa, Turkey. balkanmah@gmail.com. 2. Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey. 3. Department of Urology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
Abstract
PURPOSE: X-ray repair cross-complementing group 1 (XRCC1) plays a role in repairing DNA damage during spermatogenesis. We examined the effects the possible role of two single nucleotide polymorphisms of XRCC1 Arg194Trp and Arg399Gln in DNA repair gene XRCC1 with risk of idiopathic non-obstructive azoospermia (INOA) in a south-east Turkey population. MATERIALS AND METHODS: The genotype and allele frequencies of two observed polymorphisms of XRCC1 Arg194Trp and Arg399Gln were examined by polymerase chain reaction-restriction fragment length polymorphism in 102 infertile men with INOA and 102 fertile controls. RESULTS: In our study, all the observed genotype frequencies are in agreement with Hardy-Weinberg equilibrium. The genotype frequencies of the XRCC Arg194Trp were 84% (CC), 16% (CT) and 2% (TT) among the men with INOA, while the frequencies of those genotypes in the controls were found to be 88% (CC), 12% (CT) and 2% (TT) (?2 test: P < .05). Similarly, the genotypes frequencies of GG, GA, and AA of the XRCC1 Arg399Gln were 44%, 39%, and 19% in the group of men with INOA, whereas these frequencies were 42%, 45%, and 15% in the control group, respectively. No significant difference between the control group and the men with INOA were found in the frequencies of genotypes and allele of XRCC1 Arg194Trp and Arg399Gln (P > 0.05). CONCLUSION: Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC1 gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility.
PURPOSE:X-ray repair cross-complementing group 1 (XRCC1) plays a role in repairing DNA damage during spermatogenesis. We examined the effects the possible role of two single nucleotide polymorphisms of XRCC1Arg194Trp and Arg399Gln in DNA repair gene XRCC1 with risk of idiopathic non-obstructive azoospermia (INOA) in a south-east Turkey population. MATERIALS AND METHODS: The genotype and allele frequencies of two observed polymorphisms of XRCC1Arg194Trp and Arg399Gln were examined by polymerase chain reaction-restriction fragment length polymorphism in 102 infertile men with INOA and 102 fertile controls. RESULTS: In our study, all the observed genotype frequencies are in agreement with Hardy-Weinberg equilibrium. The genotype frequencies of the XRCC Arg194Trp were 84% (CC), 16% (CT) and 2% (TT) among the men with INOA, while the frequencies of those genotypes in the controls were found to be 88% (CC), 12% (CT) and 2% (TT) (?2 test: P < .05). Similarly, the genotypes frequencies of GG, GA, and AA of the XRCC1 Arg399Gln were 44%, 39%, and 19% in the group of men with INOA, whereas these frequencies were 42%, 45%, and 15% in the control group, respectively. No significant difference between the control group and the men with INOA were found in the frequencies of genotypes and allele of XRCC1Arg194Trp and Arg399Gln (P > 0.05). CONCLUSION: Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC1 gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility.
Authors: Yuan You; Patrick Stelzl; Dana N Joseph; Paulomi B Aldo; Anthony J Maxwell; Nava Dekel; Aihua Liao; Shannon Whirledge; Gil Mor Journal: Front Immunol Date: 2021-11-01 Impact factor: 7.561