Purpose A case-control population study was performed to investigatie the association of the SNPs (rs: 12676), (rs: 9001), (rs: 200569248) and (rs: 78371839) located on CHDH gene with azoospermiamale infertility in Iranian population. Methods Two separated population of Center and North of Iran (In Royan Institute) were collected. DNA was extracted from each samples through salting-out method. A 345bp segment of the gene was amplified using PCR. All samples were genotyped using direct sequencing. Chi-squared test and Odds Ratio were recruited to check the association of the SNPs with azoospermia, and to investigate the genetic difference in populations AMOVA was performed.
Result There was no significant genetic difference between our populations, which meant they were almost genetically similar, so we merged data from both populations in one single group. We also find a positive association between SNPs (rs: 12676) and (rs: 9001) and azoospermia infertility but no association was found in SNPs (rs: 200569248) and (rs: 78371839) with azoospermia male infertility. Conclusion Positive association probably reveals an important role of this gene in male infertility. Further studies are needed to support the obtained result. It is important to know if such an association plays a key role in male infertility so probably with a Betaine rich diet treatment we can overcome to the CHDH enzyme defects.
