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

Merisalu, Ave; Punab, Margus; Altmae, Signe; Haller, Kadri; Tiido, Tarmo LU ; Peters, Maire and Salumets, Andres (2007) In Fertility and Sterility 88(4). p.854-859
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 (Pro 185Ala), and ARNT (G/C allele) polymorphisms were genotyped using allele-specific polymerase chain reaction. Allele and genotype... (More)
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 (Pro 185Ala), 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. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
single nucleotide polymorphisms, AHR pathway, male infertility
in
Fertility and Sterility
volume
88
issue
4
pages
854 - 859
publisher
Elsevier
external identifiers
  • wos:000250192800014
  • scopus:34848856384
ISSN
1556-5653
DOI
10.1016/j.fertnstert.2006.12.041
language
English
LU publication?
yes
id
4497180d-05e5-4254-88fd-ee4698e73b74 (old id 655295)
date added to LUP
2007-12-15 15:09:53
date last changed
2017-09-10 03:31:46
@article{4497180d-05e5-4254-88fd-ee4698e73b74,
  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 (Pro 185Ala), 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.},
  author       = {Merisalu, Ave and Punab, Margus and Altmae, Signe and Haller, Kadri and Tiido, Tarmo and Peters, Maire and Salumets, Andres},
  issn         = {1556-5653},
  keyword      = {single nucleotide polymorphisms,AHR pathway,male infertility},
  language     = {eng},
  number       = {4},
  pages        = {854--859},
  publisher    = {Elsevier},
  series       = {Fertility and Sterility},
  title        = {The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility},
  url          = {http://dx.doi.org/10.1016/j.fertnstert.2006.12.041},
  volume       = {88},
  year         = {2007},
}