Genotypic and Allelic Prevalence of the TGF- Β۱ +۸۶۹ C/T SNP and Their Relationship to Seminogram in Infertile Males

Background: The influence of cytokine in the reproductive system is becoming increasingly important. The polymorphisms of the transforming growth factor-β۱ (TGF-β۱) gene are involved in male infertility. This study aimed to demonstrate the association between TGF-β۱ and infertility and to investigate its impact on semen quality. Methods: In this case-control study, serum TGF-β۱ concentration was measured in ۱۴۴ patients diagnosed with infertility and ۴۰ fertile males by enzyme-linked immunosorbent assay (ELISA). The tetra-amplification refractory mutation system-PCR (T-ARMS-PCR) analysis was performed to detect the genotyping of the TGF-β۱ (+۸۶۹ C/T) (rs۱۸۰۰۴۷۰) SNPs gene. Results: Serum concentration of TGF-β۱ was less in infertile males compared to fertile ones. The detected and more effective genotypes and alleles of TGF-β۱ gene polymorphic on male infertility were, in normozoospermic group, CT genotype, probability (p)= ۰.۴۵, relative risk (RR)= ۱.۵۶, confidence intervals (CI): ۰.۵۸–۴.۲۲, and T allele (p= ۰.۴۶, RR= ۱.۳۲, CI: ۰.۶۵—۲.۶۹), in oligozoospermic and azoospermic groups, CC genotype (p= ۰.۳۲, RR= ۱.۵۸, CI: ۰.۷۳–۳.۴۱), (p= ۰.۰۱۳, RR= ۳.۵۰, CI: ۱.۴۰–۸.۷۳), and allele C (p= ۰.۴۴, RR= ۱.۳۲, CI: ۰.۷۳–۲.۳۸), (p= ۰.۰۶, RR= ۲.۱۴, CI: ۱.۰۲–۴.۵۰), respectively. The recessive model (TT+CT) showed increased risk among normozoospermic group (p=۰.۴۴, RR=۱.۶۷, CI:۰.۶۰-۴.۶۲). The serum concentration of TGF-β۱ with CT and TT genotypes was less than that of CC genotype. TGF-β۱ C/T genotype correlated with low sperm number, high immotile sperm, and high abnormal sperm morphology. Conclusions: Our study revealed that the TGF-β۱(rs۱۸۰۰۴۷۰) gene polymorphisms are associated negatively with semen quality.

کلیدواژه ها:

Asthenozoospermia ، Non-obstructive azoospermia ، Teratozoospermia ، Oligozoospermia ، TGF-β۱ gene polymorphisms.