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Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population

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.

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Fig. 1

Data availability

All data are openly available in the form of supplementary materials.

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Funding

This work is supported by the Spermogene project which is co-financed by the European Regional Development Fund of the European Union and Greek national funds through the Operational Program Competitiveness, Entrepreneurship, and Innovation, under the call RESEARCH–CREATE–INNOVATE (Grant number Τ1ΕΔΚ-02787).

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Authors

Contributions

Maria-Anna Kyrgiafini was responsible for all data analysis and composing the manuscript along with participating in reviewing important details. Maria Markantoni participated in the creation of the study concept and in data interpretation. Theologia Sarafidou was responsible for article significant revisions. Alexia Chatziparasidou and Nicolas Christoforidis were responsible for all samples acquisition along with consent forms. Zissis Mamuris was responsible for the study concept and funding acquisition, along with article revisions.

Corresponding author

Correspondence to Zissis Mamuris.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethics approval

All the participants were informed about the study and they gave their consent in order to participate by filling out a questionnaire along with the consent form. Both the study and the consent procedure were approved by the ethics committee of the Medical Faculty of the University of Thessaly.

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Maria-Anna Kyrgiafini and Maria Markantoni are joint first authors

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Kyrgiafini, MA., Markantoni, M., Sarafidou, T. et al. Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population. J Assist Reprod Genet 37, 2869–2881 (2020). https://doi.org/10.1007/s10815-020-01937-w

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Keywords

  • GWAS
  • Male infertility
  • Greek population
  • lincRNA