Abstract：
The aim of this study was to investigate the association of 24 functionally important single nucleotide polymorphisms (SNPs) with male infertility. In this cross-sectional study, we genotyped 24 functionally important single nucleotide polymorphisms in 24 infertility candidate genes in 500 oligo-/astheno-/oligoastheno-/normo-zoospermic infertile men with idiopathic infertility. Sequenom iPlex gold assay was used for genotyping. Sperm count and motility were compared between prevalent genotypes at each test locus. We did not observe any significant difference in the average sperm count between the alternate genotypes for the loci in the KLK3, LRRC6, MEIG1, HSF2, ESR2 and PTIP genes. However, we observed a significant difference in sperm motility between the alternate genotypes for the loci in the LRRC6, MEIG1, HSF2 and PTIP genes. Polymorphisms in the LRRC6 (rs200321595), MEIG1 (rs150031795), HSF2 (rs143986686) and PTIP (rs61752013) genes show association with sperm motility.
摘要：
这项研究的目的是研究24个功能重要的单核苷酸多态性（SNP）与男性不育的关系。在这项横断面研究中，我们对500例特发性不育症患者中24个不育症候选基因中24个功能上重要的单核苷酸多态性进行了基因分型。SequenomiPlex金测定法用于基因分型。在每个测试基因座的流行基因型之间比较了精子计数和运动能力。我们没有观察到KLK3，LRRC6，MEIG1，HSF2，ESR2和PTIP基因中基因座的替代基因型之间的平均精子数量有任何显着差异。然而,我们观察到LRRC6，MEIG1，HSF2和PTIP基因中基因座的替代基因型之间的精子运动性存在显着差异。LRRC6（rs200321595）中的多态性，MEIG1(rs150031795),HSF2(rs143986686)和PTIP(rs61752013)基因显示与精子运动性相关。
