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Dr. Adrian Man
Research article ATM rs189037 polymorphism: A potential genetic risk factor for sperm DNA damage and male infertility Gülbahar Güzel Erdal, Mahmut Balkan, Selahattin Tekeş, Diclehan Oral, Zuhal Çankiri
Correspondence should be addressed to: Gülbahar Güzel Erdal
Abstract: Background: Sperm DNA integrity is critical for fertilization, embryo development, and a healthy pregnancy; DNA damage is an important cause of male infertility. The ATM gene safeguards genomic integrity by orchestrating critical DNA repair pathways. The rs189037 polymorphism in the ATM gene may influence sperm DNA fragmentation (SDF) by affecting this pathway. This study examines the potential link between the ATM rs189037 genetic variant and elevated SDF levels in men diagnosed with idiopathic oligospermia. Methods: The study involved 40 men with idiopathic infertility and 21 men who were normozoospermic. SDF in semen samples from these 61 participants was analyzed using the TUNEL test. The rs189037 alleles of the ATM gene polymorphisms were genotyped using Taq-Man allele-specific probes in real-time PCR. Results: This study identified a significant association between genotypic variations of the ATM rs189037 polymorphism and infertility. The genotype frequencies of the rs189037 polymorphism in the patient group were 20% GG, 37.5% GA, and 42.5% AA, whereas in the control group, the respective frequencies were 52.38% GG, 33.33% GA, and 14.28% AA. These findings indicate that the frequency of the A allele was higher in patients than controls (p<0.05) and was positively correlated with increased SDF (p<0.05). Conclusions: This study identifies the A allele of ATM rs189037 as a significant genetic factor associated with impaired sperm DNA integrity in idiopathic oligospermic men, suggesting its potential utility as a novel biomarker for the diagnosis and subclassification of idiopathic male infertility. Keywords: ATM, oligospermic infertile men, rs189037, sperm DFI, TUNEL
Received: 3.4.2025 |
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