• PMID: 21561808
• Gene Name: PON2
• Condition: Male infertility
• Association: Statistically significant differences were found in PON1-55MM genotype and PON1-55M allele distribution between the infertile and fertile men. No significant differences in genotype frequencies of other tested polymorphisms (PON1-192, PON2-311, GSTM1/T1)
• Mutation: PON1-55/192, PON2-311, GSTM1/T1
• Population size: 381
• Population details: 381 (187 infertile men (86 with non-obstructive azoospermia (NOA) and 101 with oligoasthenoteratozoospermia (OAT)), 194 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PON1, PON2, GSTM1, GSTT1
• Other associated phenotypes: Male infertility

Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci

Volk M, Jakli? H, Zorn B, Peterlin B.

Environmental xenobiotics such as organophosphate pesticides are known factors involved in male infertility. Paraoxanase (PON) and glutathione transferase (GST) are involved in biotransformation of organophosphate pesticides. Interindividual genetic variations in biotransformation enzyme activities can lead to differences in the susceptibility to male infertility. This case-control study investigated associations between polymorphisms in the PON and GST genes (PON1-55/192, PON2-311, GSTM1/T1) and infertility. The study group consisted of 187 infertile men (86 with non-obstructive azoospermia (NOA) and 101 with oligoasthenoteratozoospermia (OAT)), whereas the control group comprised of 194 fertile men. Statistically significant differences were found in PON1-55MM genotype (chi-squared=7.37; P=0.02) and PON1-55M allele (chi-squared=5.98; P=0.01) distribution between the infertile and fertile men. A separate analysis revealed that significant differences in genotype frequencies were limited to the OAT group (chi-squared=9.11, P=0.01). However, no significant differences in genotype frequencies of other tested polymorphisms (PON1-192, PON2-311, GSTM1/T1) and male infertility were observed. The PON1-55M allele might represent a risk factor for infertility susceptibility in Slovenian men. Further studies with a larger sample size are needed to confirm these findings. CI - Copyright © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Volk, Marija AU - Volk M AD - Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, SI-1525 Ljubljana, Slovenia. FAU - Jaklič, Helena AU - Jaklič H FAU - Zorn, Branko AU - Zorn B