Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the G
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GENETICS
Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population Maria-Anna Kyrgiafini 1 & Maria Markantoni 1 & Theologia Sarafidou 1 & Alexia Chatziparasidou 2 & Nicolas Christoforidis 2 & Zissis Mamuris 1 Received: 15 June 2020 / Accepted: 18 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract 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. Keywords GWAS . Male infertility . Greek population . lincRNA
Introduction Infertility is “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse” according to the World Health Organization [1] and a worldwide problem. Approximately one in six couples in the Western world are Maria-Anna Kyrgiafini and Maria Markantoni are joint first authors Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10815-020-01937-w) contains supplementary material, which is available to authorized users. * Zissis Mamuris [email protected] 1
Laboratory of Genetics, Comparative and Evolutionary Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Viopolis, Mezourlo, 41500 Larisa, Greece
2
Embryolab IVF Unit, St. 173-175 Ethnikis Antistaseos, Kalamaria, Thessaloniki, Greece
affected by infertility [2], which results in social and psychological impacts [3]. It is estimated that male factor is solely responsible for 30% of cases and co-contributes with female factor to 20%, resulting in a presence up to 50% of the total cases [4]. It is also estimated that 7% of the male population deals with infertility [5]; however, the statistics of male infertility do not reflect accurate rates in all countries due to cultural
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