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


METHODS
An association study.


METHODS
University research laboratory and andrology clinic.


METHODS
The subjects were infertile Estonian men (n = 112) with azoospermia or oligozoospermia and controls (n = 212) with normal sperm parameters.


METHODS
Blood samples were obtained for DNA extraction and genotyping.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Merisalu
Ave
A
Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia.
Punab
Margus
M
Altmäe
Signe
S
Haller
Kadri
K
Tiido
Tarmo
T
Peters
Maire
M
Salumets
Andres
A
D000293:Adolescent; D000328:Adult; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins; D005787:Gene Frequency; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018336:Receptors, Aryl Hydrocarbon / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
D051784:Aryl Hydrocarbon Receptor Nuclear Translocator; D051792:Basic Helix-Loop-Helix Proteins; D018336:Receptors, Aryl Hydrocarbon; D012097:Repressor Proteins; C492162:AHRR protein, human; C497396:ARNT protein, human