Moghbelinejad Sahar, Najafipour Reza, Momeni Abdolmabood
Cellular and Molecular Research Centre, Qazvin University of Medical Sciences, P. O. Box 341197-5981, Qazvin, Iran.
Biology-Genetic Department, School of Basic Science, Arak University, Arak, Iran.
Genes Genomics. 2018 Jan;40(1):17-24. doi: 10.1007/s13258-017-0605-9. Epub 2017 Aug 29.
Since genes involved in microRNA biogenesis pathways have a main role in impaired spermatogenesis, in this research, we evaluated different genotypes frequency of seven single-nucleotide polymorphisms in DICER1 and DROSHA genes. Different genotypes frequency of DICER1 (rs12323635, rs1057035, rs13078 and rs3742330) and DROSHA (rs10719, rs642321 and rs2291102) were determined by sequencing method in 385 infertile men and 120 fertile controls. It was found that CC genotype (P = 0.000) and C allele (P = 0.0) of rs1057035 T > C polymorphism were associated with idiopathic male infertility (azoospermia). Gene expression study in blood and testis samples was done by real time PCR technique. Our results showed significant under expression of DICER1 gene in blood and testis tissues of azoospermic samples (P < 0.05), but we did not observed significant difference in expression ratio between infertile men with and without C allele of rs1057035 SNP (P > 0.05). The results of this study showed that among the studied variants, only one of them in DICER1 might be associated with azoospermia, but additional studies needs in different populations and ethnics.
由于参与微小RNA生物合成途径的基因在精子发生受损中起主要作用，在本研究中，我们评估了DICER1和DROSHA基因中七个单核苷酸多态性的不同基因型频率。通过测序方法在385名不育男性和120名生育对照中确定了DICER1（rs12323635、rs1057035、rs13078和rs3742330）和DROSHA（rs10719、rs642321和rs2291102）的不同基因型频率。发现rs1057035 T>C多态性的CC基因型（P = 0.000）和C等位基因（P = 0.0）与特发性男性不育（无精子症）相关。通过实时PCR技术对血液和睾丸样本进行基因表达研究。我们的结果显示，无精子症样本的血液和睾丸组织中DICER1基因表达明显下调（P < 0.05），但我们未观察到rs1057035 SNP有C等位基因和无C等位基因的不育男性之间表达率的显著差异（P > 0.05）。本研究结果表明，在所研究的变异中，DICER1中的一个变异可能与无精子症相关，但需要在不同人群和种族中进行更多研究。
