title: The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility.
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.
  
  
  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.
authors.affiliation: Department of Biotechnology, Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia.
authors.forename: Ave
authors.initials: A
authors.lastname: Merisalu
authors.forename: Margus
authors.initials: M
authors.lastname: Punab
authors.forename: Signe
authors.initials: S
authors.lastname: Altmäe
authors.forename: Kadri
authors.initials: K
authors.lastname: Haller
authors.forename: Tarmo
authors.initials: T
authors.lastname: Tiido
authors.forename: Maire
authors.initials: M
authors.lastname: Peters
authors.forename: Andres
authors.initials: A
authors.lastname: Salumets
mesh_terms: 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*
chemical_list: 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