Balkan Mahmut, Atar Murat, Erdal Mehmet Emin, Rustemoğlu Aydin, Yildiz Ismail, Gunesacar Ramazan, Hatipoğlu Namık Kemal, Bodakçi Mehmet Nuri, Ay Ozlem Izci, Çevik Kenan
1 Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University , Diyarbakir, Turkey .
Genet Test Mol Biomarkers. 2014 Jun;18(6):383-8. doi: 10.1089/gtmb.2013.0454. Epub 2014 Mar 25.
To investigate the association of the genetic variants of FAS/FASLG cell death pathway genes in male infertility, we genotyped the FAS -670A/G, -1377G/A, and FASLG -124A/G single-nucleotide polymorphisms (SNPs) by real-time polymerase chain reaction in 108 infertile men with idiopathic azoospermia and in 125 proven fertile controls. The distribution of genotypes and alleles for SNPs at FAS -1377G/A and FASLG -124A/G loci were determined not to be statistically different between the case and control groups. However, the genotype frequencies of SNPs, FAS -670AA and FAS -670AG, were found to be significantly different between the case and control groups. Whereas the FAS -670AA genotype might be regarded as a higher predisposition for idiopathic azoospermia, FAS -670AG could be interpreted to mean that this genotype provides protection against idiopathic azoospermia. The study of combined genotype and haplotype frequencies has found statistically significant differences between case and control subjects for some combinations. The AA-GG binary genotype for the FAS670 and FAS1377 loci couple, in particular, may have a high degree of predisposition to idiopathic azoospermia. Our results suggest that FAS -670A/G SNP may be a genetic predisposing factor of idiopathic azoospermia among southeastern Anatolian men. Larger studies are needed to verify these findings. Furthermore, our data indicated a possible linkage between the FAS and FASLG genes and idiopathic azoospermia.
为了研究FAS/FASLG细胞死亡途径基因的遗传变异与男性不育的关联，我们通过实时聚合酶链反应对108例特发性无精子症不育男性和125例已证实可育的对照者进行了FAS -670A/G、-1377G/A以及FASLG -124A/G单核苷酸多态性（SNP）的基因分型。结果显示，病例组和对照组之间FAS -1377G/A和FASLG -124A/G位点SNP的基因型和等位基因分布无统计学差异。然而，病例组和对照组之间FAS -670AA和FAS -670AG的SNP基因型频率存在显著差异。FAS -670AA基因型可能被视为特发性无精子症的较高易感性，而FAS -670AG则可解释为该基因型对特发性无精子症具有保护作用。对组合基因型和单倍型频率的研究发现，某些组合在病例组和对照组之间存在统计学显著差异。特别是FAS670和FAS1377位点的AA-GG二元基因型，可能对特发性无精子症具有高度易感性。我们的结果表明，FAS -670A/G SNP可能是安纳托利亚东南部男性特发性无精子症的遗传易感因素。需要更大规模的研究来验证这些发现。此外，我们的数据表明FAS和FASLG基因与特发性无精子症之间可能存在联系。
