Genotypic and Allelic Prevalence of the TGF- Β1 +869 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-β1 (TGF-β1) gene are involved in male infertility. This study aimed to demonstrate the association between TGF-β1 and infertility and to investigate its impact on semen quality.

Methods: In this case-control study, serum TGF-β1 concentration was measured in 144 patients diagnosed with infertility and 40 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-β1 (+869 C/T) (rs1800470) SNPs gene.

Results: Serum concentration of TGF-β1 was less in infertile males compared to fertile ones. The detected and more effective genotypes and alleles of TGF-β1 gene polymorphic on male infertility were, in normozoospermic group, CT genotype, probability (p)= 0.45, relative risk (RR)= 1.56, confidence intervals (CI): 0.58-4.22, and T allele (p= 0.46, RR= 1.32, CI: 0.65-2.69), in oligozoospermic and azoospermic groups, CC genotype (p= 0.32, RR= 1.58, CI: 0.73-3.41), (p= 0.013, RR= 3.50, CI: 1.40-8.73), and allele C (p= 0.44, RR= 1.32, CI: 0.73-2.38), (p= 0.06, RR= 2.14, CI: 1.02-4.50), respectively. The recessive model (TT+CT) showed increased risk among normozoospermic group (p=0.44, RR=1.67, CI:0.60-4.62). The serum concentration of TGF-β1 with CT and TT genotypes was less than that of CC genotype. TGF-β1 C/T genotype correlated with low sperm number, high immotile sperm, and high abnormal sperm morphology.

Conclusions: Our study revealed that the TGF-β1(rs1800470) gene polymorphisms are associated negatively with semen quality.