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男性不育与 PON1/2 和 GSTM1/T1 基因座遗传变异的关联。

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

机构信息

Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, SI-1525 Ljubljana, Slovenia.

出版信息

Reprod Biomed Online. 2011 Jul;23(1):105-10. doi: 10.1016/j.rbmo.2011.03.021. Epub 2011 Mar 26.

Abstract

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.

摘要

环境污染物,如有机磷农药,是已知的导致男性不育的因素。对氧磷酶(PON)和谷胱甘肽转移酶(GST)参与有机磷农药的生物转化。生物转化酶活性的个体遗传变异可导致男性不育易感性的差异。这项病例对照研究调查了 PON 和 GST 基因(PON1-55/192、PON2-311、GSTM1/T1)多态性与不育之间的关联。研究组包括 187 名不育男性(86 名非梗阻性无精子症(NOA)和 101 名少弱畸形精子症(OAT)),对照组包括 194 名生育男性。PON1-55MM 基因型(卡方=7.37;P=0.02)和 PON1-55M 等位基因(卡方=5.98;P=0.01)在不育和生育男性之间的分布存在统计学显著差异。单独分析显示,基因型频率的显著差异仅限于 OAT 组(卡方=9.11,P=0.01)。然而,其他测试的多态性(PON1-192、PON2-311、GSTM1/T1)和男性不育的基因型频率没有显著差异。PON1-55M 等位基因可能代表斯洛文尼亚男性不育易感性的危险因素。需要更大样本量的进一步研究来证实这些发现。

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