ADJUSTING DEVIATIONS FROM HARDY WEINBERG EQUILIBRIUM (HWE) FOR ASSOCIATION STUDY OF MALE INFERTILITY AND POLYMORPHISMS IN XRCC1 AND LIG4 GENES
Backgrounds: The prevalence of LIG4 and XRCC1 genes among fertile and infertile men was tested for deviations from the Hardy Weinberg equilibrium using EM algorithm.
Methods: DNA was extracted from blood samples of the studied subjects and the genotypes were determined using PCR-RFLP. Allele frequencies were also determined. Deviations from the Hardy Weinberg equilibrium were assessed using expectation maximization algorithm. Chi-square test and logistic regression test were used to compare the genotypes in case of control groups. Area under the curve of ROC graph was used to compare the performance of gene.
Results: The frequencies of the GA and GG genotypes of XRCC1, the CT, TT, and CC genotypes of LIG4 were significantly different between the fertile and infertile groups.
Conclusion: The findings of present study indicate that LIG4 and XRCC1 genes are effective in the male fertility. Among them, LIG4 gene has the highest power in the identification of subjects predispose to infertility.
EM algorithm, Hardy Weinberg equilibrium, infertility, polymorphisms.