• PMID: 17559847
• Gene Name: AHRR
• Condition: Male factor infertility
• Association: 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
• Mutation: AHR (Arg554Lys), AHRR (Pro185Ala), and ARNT (G/C allele)
• Population size: 324
• Population details: 324 (112 with azoospermia or oligozoospermia, 212 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AHR, AHRR, ARNT
• Other associated phenotypes: Male factor infertility

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.

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. FAU - Merisalu, Ave AU - Merisalu A AD - Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia. FAU - Punab, Margus AU - Punab M FAU - Altmäe, Signe AU - Altmäe S FAU - Haller, Kadri AU - Haller K FAU - Tiido, Tarmo AU - Tiido T FAU - Peters, Maire AU - Peters M