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The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility.

Merisalu A, Punab M, Altmäe S, Haller K, Tiido T, Peters M, Salumets A

Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia.

OBJECTIVE: To determine whether the polymorphisms in aryl hydrocarbon receptor (AHR), aryl hydrocarbon receptor repressor (AHRR), and aryl hydrocarbon receptor nuclear translocator (ARNT) genes are associated with male factor infertility. DESIGN: An association study. SETTING: University research laboratory and andrology clinic. PATIENT(S): The subjects were infertile Estonian men (n = 112) with azoospermia or oligozoospermia and controls (n = 212) with normal sperm parameters. INTERVENTION(S): Blood samples were obtained for DNA extraction and genotyping. MAIN OUTCOME MEASURE(S): AHR (Arg554Lys), AHRR (Pro185Ala), and ARNT (G/C allele) polymorphisms were genotyped using allele-specific polymerase chain reaction. Allele and genotype frequencies were compared between infertile men and controls and separately in the normozoospermia, oligozoospermia, and azoospermia groups. RESULT(S): The AHRR Ala185Ala genotype was implicated in susceptibility to male factor infertility. Ala/Ala genotype frequency increased in the following order: normozoospermia (18.0%), oligozoospermia (26.0%), azoospermia (42.1%). Allele and genotype frequencies of AHR and ARNT polymorphisms were similar between cases and controls. CONCLUSION(S): We demonstrated that the AHRR Pro185Ala polymorphism contributed to a predisposition to male factor infertility in the Estonian population. A greater prevalence of the Ala/Ala genotype was found among infertile patients.

Published 8 October 2007 in Fertil Steril, 88(4): 854-9.
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