Background

Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they lie within or near lncRNA regions.

Objectives

The aim of this study was to investigate whether polymorphisms on or near lncRNAs affect interactions with miRNAs and can cause male infertility.

Materials and methods

In the present study, a GWAS was conducted, using samples from 159 individuals (83 normozoospermic individuals and 76 patients of known fertility issues). Standard procedures for quality controls and association testing were followed, based on case-control testing.

Results

We detected six lncRNAs (LINC02231, LINC00347, LINC02134, NCRNA00157, LINC02493, Lnc-CASK-1) that are associated with male infertility through their interaction with miRNAs. Furthermore, we identified the genes targeted by those miRNAs and highlighted their functions in spermatogenesis and the fertilization process.

Discussion and conclusion

lncRNAs are involved in spermatogenesis through their interaction with miRNAs. Thus, their study is very important, and it may contribute to the understanding of the molecular mechanisms underlying male infertility.

中文翻译：

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全基因组关联研究确定了与希腊人群中与男性不育相关的 lincRNA 相关的候选标记。

背景

男性不育是目前全球夫妻面临的最常见问题之一。我们对希腊人口进行了 GWAS 并收集了具有统计意义的 SNP，以研究它们是否位于 lncRNA 区域内或附近。

目标

本研究的目的是调查 lncRNA 上或附近的多态性是否会影响与 miRNA 的相互作用并可能导致男性不育。

材料和方法

在本研究中，使用来自 159 名个体（83 名正常精子个体和 76 名已知生育问题的患者）的样本进行了 GWAS。根据病例对照试验，遵循质量控制和关联试验的标准程序。

结果

我们检测到六种 lncRNA（LINC02231、LINC00347、LINC02134、NCRNA00157、LINC02493、Lnc-CASK-1）通过与 miRNA 的相互作用与男性不育相关。此外，我们确定了这些 miRNA 靶向的基因，并强调了它们在精子发生和受精过程中的功能。

讨论与结论

lncRNA 通过与 miRNA 的相互作用参与精子发生。因此，他们的研究非常重要，它可能有助于理解男性不育的分子机制。