| Abstract Aryl hydrocarbon receptor (AHR) is responsible
for crucial events in male reproductive biology. Here, the association
of the AHR transitions c.-742C>T and c.1661G>A
with idiopathic male infertility was investigated in a casecontrol
study, which is followed by a meta-analysis and a
bioinformatic investigation. Blood and semen samples were
obtained from a total of 135 idiopathic infertile men and 130
healthy controls. Participants were genotyped for the transitions
using a PCR-RFLP method. A meta-analysis of five sets
of data evaluated the association of c.1661G>A with male
infertility, and using an in silico analysis, the possible molecular
effects of the transitions predicted. Genotypes and alleles
of AHR-c.-742C>Tand c.1661G>A polymorphisms were not
associated with the risk of male infertility significantly.
However, the frequency of C/A haplotype was significantly
associated with the increased risk of male infertility, and T/A
haplotype was higher among controls significantly. Also, the
frequencies of combined genotypes CT/GG, CT/GA and TT/
GG were significantly associated with decreased risk of
infertility. And, the meta-analysis showed that the AA versus
GA/GG recessive model is associated with decreased risk of
male infertility among the Iranian population. In silico analysis
predicted that c.-742C>T does not alter the binding sites of
the proposed transcription factors, but c.1661G>A poses a
tolerable structural disturbance in AHR protein. In conclusion,
these results showed that AHR c.-742C>T and c.1661G>A
transitions separately could not be nominated as a risk or protective
factor for male infertility. However, some combined
models could affect infertility risk, especially among Iranian
men. |