Jamalvandi Mina, Motovali-Bashi Majid, Amirmahani Farzane, Darvishi Parisa, Jamshidi Goharrizi Kiarash
Department of Immunology, Faculty of Medical Sciences, Ilam University of Medical Sciences, Ilam, Iran.
Genetic Division, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, 81746-73441, Iran.
Mol Biol Rep. 2018 Aug;45(4):413-417. doi: 10.1007/s11033-018-4176-x. Epub 2018 Apr 7.
Infertility occurs in 10-15% of couples worldwide and close to half of it is caused by male factors. One of the genes that can affect male infertility is CGA. Polymorphisms in CGA gene may affect gene expression, therefore affecting male infertility by disrupting the regulation of this gene. One of the polymorphisms is the substitution of T with A in the miR-1302 binding site in the 3' untranslated region of the CGA gene. In this study, we explored this polymorphism in Isfahan population. In this case-control study, by the use of Tetra primer-ARMS-PCR technique, rs6631 has been investigated in 224 infertile men and 196 controls. Infertile men were recruited from Isfahan Fertility and Infertility Center. Analysis of genotype and allele frequencies indicated that the differences between case and control populations were significant for rs6631 because P = 0.00 which is above the threshold. We found a significant relationship between this polymorphism and male infertility. This study which performed for the first time in Iran suggests that polymorphism in CGA gene can affect male infertility. Also, this polymorphism has high heterozygosity, so it can be used for further studies in different populations.
全球10%至15%的夫妇存在不孕不育问题，其中近一半是由男性因素导致的。影响男性不育的基因之一是CGA。CGA基因的多态性可能影响基因表达，进而通过破坏该基因的调控影响男性不育。其中一种多态性是CGA基因3'非翻译区miR-1302结合位点处的T被A取代。在本研究中，我们在伊斯法罕人群中探究了这种多态性。在这项病例对照研究中，通过使用四引物扩增受阻突变系统聚合酶链反应（Tetra primer-ARMS-PCR）技术，对224名不育男性和196名对照者的rs6631进行了研究。不育男性来自伊斯法罕生育与不育中心。基因型和等位基因频率分析表明，rs6631在病例组和对照组人群之间的差异具有统计学意义，因为P = 0.00，高于阈值。我们发现这种多态性与男性不育之间存在显著关联。这项首次在伊朗进行的研究表明，CGA基因的多态性会影响男性不育。此外,这种多态性具有高杂合性，因此可用于不同人群的进一步研究。
