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Fertil Steril. 2007 Oct;88(4):854-9. Epub 2007 Jun 7.

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

Author information

1
Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia.

Abstract

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.

[Indexed for MEDLINE]

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