• PMID: 26166670
• Gene Name: ADA1
• Condition: Male infertility
• Association: Associated
• Mutation: ADA1 G22 A
• Population size: 400
• Population details: 400 (200 fertile men, 200 infertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ADA1
• Other associated phenotypes: Male infertility

The Role of G22 A Adenosine Deaminase 1 Gene Polymorphism and the Activities of ADA Isoenzymes in Fertile and Infertile Men

Fattahi A, Khodadadi I, Amiri I, Latifi Z, Ghorbani M, Tavilani H.

OBJECTIVE: To evaluate frequency distribution of adenosine deaminase 1 (ADA1) G22 A alleles and genotypes in fertile and infertile men. METHODS: In this study we evaluate frequency distribution of ADA1 G22 A alleles and genotypes in 200 fertile and 200 infertile men. The polymerase chain reaction-restriction fragment length polymorphism technique was used for determining ADA1 G22 A variants. In addition, ADA isoenzymes activities (ADA1 and ADA2) were measured using colorimetric method. RESULTS: The frequency of GG genotype was significantly higher and GA genotype was lower in infertile males compared with fertile men (P = .048 and P = .045, respectively). However, there was not any noticeable difference in allele distribution between groups (P >.05). Based on logistic regression analysis, the GA genotype has a protective role and can decrease the risk of male infertility 1.7 times (P = .046). There were significantly higher activities of ADAT and its isoenzymes in infertile males compared with fertile men (P <.05). Also, the ADA1 activity with GG genotype was higher than GA carriers in all population (P = .001). CONCLUSION: Our results revealed that the activity of ADA isoenzymes and distribution of ADA1 G22 A genotypes were different among fertile and infertile men and more likely the GA genotype, which had lower ADA1 activity and was higher in fertile men is a protective factor against infertility. CI - Copyright © 2015 Elsevier Inc. All rights reserved. FAU - Fattahi, Amir AU - Fattahi A AD - Women's Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. FAU - Khodadadi, Iraj AU - Khodadadi I AD - Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. FAU - Amiri, Iraj AU - Amiri I AD - Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran. FAU - Latifi, Zeinab AU - Latifi Z AD - Department of Clinical Biochemistry, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. FAU - Ghorbani, Marzieh AU - Ghorbani M AD - Department of Biochemistry, Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.