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  • Title: rs189037, a functional variant in ATM gene promoter, is associated with idiopathic nonobstructive azoospermia.
    Author: Li Z, Yu J, Zhang T, Li H, Ni Y.
    Journal: Fertil Steril; 2013 Dec; 100(6):1536-41.e1. PubMed ID: 23993922.
    Abstract:
    OBJECTIVE: To investigate the relationship between a functional variant rs189037(G>A) in ATM promoter and idiopathic nonobstructive azoospermia (INOA) in a Chinese population. DESIGN: Case-control study. SETTING: Medical academy and hospital. PATIENT(S): Two hundred twenty-nine INOA patients and 236 fertile male controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotyping was performed by polymerase chain reaction-based restriction fragment length polymorphism and subsequently confirmed by DNA sequencing. Odds ratio (ORs) and 95% confidence intervals (95% CIs) were calculated for the risk genotype and allele. Bioinformatic analysis was also performed to predict the biological function of rs189037(G>A). RESULT(S): The AA genotype and A allele at rs189037(G>A) locus were both associated with an increased risk of INOA, with OR 1.90 (95% CI 1.214-3.007) for AA and 1.41 (95% CI 1.112-1.775) for A allele. The heterozygous GA and GA+AA had no relationship with INOA risk, with OR 1.06 (95% CI 0.761-1.472) and 1.28 (95% CI 0.954-1.708), respectively. Meanwhile, stratification by genotype showed that INOA patients with AA had higher FSH level, lower total T level, and smaller testicular size than those patients with GG. Furthermore, bioinformatic analysis predicted that the rs189037(G>A) variant was located in a well-conserved region in ATM promoter and that the transition of allele G to allele A might lead to differential allelic expression of ATM gene via modifying of the DNA-binding ability of transcription factor E2F1. CONCLUSION(S): The genetic variant rs189037(G>A) in ATM gene promoter contributes to an increased risk of INOA in a Chinese population, possibly through affecting the DNA-binding ability of E2F1 and subsequent ATM expression.
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