• PMID: 28712079
• Gene Name: AHR
• Condition: Idiopathic male infertility
• Association: Associated
• Mutation: c.-742C>T, c.1661G>A
• Population size: 265
• Population details: 265 (135 idiopathic infertile men, 130 healthy controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

Aryl hydrocarbon receptor gene transitions (c.-742C>T; c.1661G>A) and idiopathic male infertility: a case-control study with in silico and meta-analysis

Aftabi Y, Hosseinzadeh Colagar A, Mehrnejad F, Seyedrezazadeh E, Moudi E.

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 case-control 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>T and 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. FAU - Aftabi, Younes AU - Aftabi Y AD - Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Mazandaran, Post Code: 47416-95447, Iran. FAU - Hosseinzadeh Colagar, Abasalt AU - Hosseinzadeh Colagar A AD - Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Mazandaran, Post Code: 47416-95447, Iran. ahcolagar@umz.ac.ir. FAU - Mehrnejad, Faramarz AU - Mehrnejad F AD - Department of Life Science Engineering, Faculty of New Sciences and Technologies, University of Tehran, P.O. Box: 14395-1561, Tehran, Iran. FAU - Seyedrezazadeh, Ensiyeh AU - Seyedrezazadeh E AD - Tuberculosis and Lung Disease Research Center, Tabriz University of Medical Sciences, P.O. Box: 53714-161, Tabriz, Iran.