TG12-T5-V470 haplotype in the CFTR gene is associated with non-obstructive azoospermia in Iranian infertile men

Introduction: Recent studies have shown that some variations and polymorphisms of CFTR gene can be involved in other types of infertility apart from CBAVD. In this study, we decided to survey the poly-T, TG repeats and M470V of the CFTR gene in infertile men with non-obstructive azoospermia in Iran. Material and method: This case-control study was performed on 203 NOA patients and a control group (n = 200), the peripheral blood samples were collected in EDTA vacuum tubes. Then genomic DNA was extracted and PCRsequencing was carried out on the 3 ' ends of intron 8 CFTR gene to identify poly-T and TG repeats. Genotyping of M470V was carried out using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Result: The mean age of the infertile men and in control group was 31 +/- 3.7, 30 +/- 2.6 years, respectively. Frequency of T5 allele in males with non-obstructive azoospermia was found higher than that of the control group (OR 2.5798, 95% CI 1.3013-5.1143, P < 0.001). The allelic frequency of TG12-5T in males with nonobstructive azoospermia was significantly higher than that observed in the control group (OR 15.7143, 95% CI 2.7576-89.5497, P < 0.001) and also the TG12-5T-V470 haplotype was significantly associated with NOA as compared to normal controls, (OR 19.2857, 95% CI 1.0458-355.6390, P < 0.0001). Conclusion: It seems that T5, TG12-T5 and also TG12-T5-V470 haplotype can be associated with the risk of NOA in men, but further researches are necessary to clarify accurate role CFTR gene in NOA.