Ghalkhani Esmat, Sheidai Masoud, Gourabi Hamid, Noormohammadi Zahra, Bakhtari Narjes, Malekasgar Ali Mohammad
Biology Department, Shahid Beheshti University, Tehran, Iran,
J Assist Reprod Genet. 2014 Sep;31(9):1205-10. doi: 10.1007/s10815-014-0279-z. Epub 2014 Jul 9.
The present study is a case-control analysis of a SNP (rs28368082) in exon 7 of the SPO11 gene and its possible association with male infertility in three provinces of Iran. We also searched for genetic differences among populations.
Using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis, we genotyped 113 infertile men and 50 fertile controls. Then, samples consisting SNP, as determined by PCR-RFLP, were genotyped by sequencing. The differences in genotype distributions between cases and fertile controls were examined using Chi-squared analysis. The genetic difference between individuals with mutated nucleotide was investigated by phylogenetic trees. Genetic difference among populations (provinces) was analyzed through ANOVA test, and homogeneity was investigated using STRUCTURE and K-means clustering analysis.
According to the statistical analysis, the SNP was significantly associated with male infertility in all populations except oligozoospermic cases of the Center region. The phylogenetic trees showed partial genetic variation among the individuals, although ANOVA test showed no significant genetic difference between populations (provinces) for both azoospermic, and oligozoospermic cases. Eventually, we affirmed that individuals in the inclusive populations had genetic difference, but it was not statistically significant for dividing underlying populations to separate groups, so each population was homogenous.
Our study indicates that the mentioned polymorphism in SPO11 gene may be linked to the susceptibility of azoospermia and oligozoospermia male infertility in three provinces of Iran. Further studies are required to support obtained results. It finally should be noted that the possible association between a particular SNP and a specific disease completely depends on the underlying population.
本研究是一项病例对照分析，研究SPO11基因第7外显子中的一个单核苷酸多态性（SNP，rs28368082）及其与伊朗三个省份男性不育症的可能关联。我们还研究了不同人群之间的遗传差异。
使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析，我们对113名不育男性和50名生育能力正常的对照进行了基因分型。然后，对通过PCR-RFLP确定包含SNP的样本进行测序基因分型。使用卡方分析检查病例组和生育能力正常对照组之间基因型分布的差异。通过系统发育树研究核苷酸突变个体之间的遗传差异。通过方差分析检验分析不同人群（省份）之间的遗传差异，并使用STRUCTURE和K均值聚类分析研究同质性。
根据统计分析，除中部地区少精子症病例外，该SNP在所有人群中均与男性不育症显著相关。系统发育树显示个体之间存在部分遗传变异，尽管方差分析检验显示无精子症和少精子症病例在不同人群（省份）之间没有显著的遗传差异。最终，我们确认纳入人群中的个体存在遗传差异，但对于将潜在人群划分为不同组而言，这种差异在统计学上并不显著，因此每个人群都是同质的。
我们的研究表明，SPO11基因中提到的多态性可能与伊朗三个省份无精子症和少精子症男性不育症的易感性有关。需要进一步的研究来支持所得结果。最后需要注意的是，特定SNP与特定疾病之间的可能关联完全取决于潜在人群。
