Association between CPEB1 gene polymorphism and Iranian male infertility

Abstract

Introduction: Spermatogenesis is a strictly regulated process in sperm production that is needed for sperm production transcriptional and posttranscriptional regulations. The cytoplasmic polyadenylation element binding (CPEB) protein regulates cytoplasmic polyadenylation of mRNAs in oogenesis and spermatogenesis. The purpose of the present studywas examining the association between rs2303846, which is located at 3'UTR of CPEB gene, and Iranian male infertility. Methods: In this case–control analysis, 140 blood samples were collected (70 fertile men and 70 infertile men). rs2303846 genotypes were determined by PCR-RFLP method and the results were confirmed by sequencing. The differences in genotype distributions between cases and fertile controls were examined using Chi-squared analysis and SNPSTAT software. Corelation between this SNP and miRNAs was examined. Results: TT genotype was observed in 5 infertile men among 70 case samples, while all control samples showed CC genotype and there was a significant association in this difference (P= 0.023). This SNP exist in seed region of three miRNAs (hsa-miR-143-5p, hsa-miR- 6511b-5p, hsa-miR-3944-5p) and T allele causes seed destruction. In addition, T allele leads to the loose binding of all the selected miRNAs. Conclusion: Our results indicate that rs2303846, which is located on CPEB1 is associated with the risk of infertility in Iranian population. Our bioinformatics analysis showed that changing the T allele of rs2303846, instead of C allele could loose miRNA binding to their target genes in our selected miRNAs. Consequently, the gene is stable and its expression continues.

Keywords

• Male Infertility
• Single nucleotid polymorphism
• CPEB1 gene