Single nucleotide polymorphisms of Interleukin - 4, Interleukin-18, FCRL3 and sPLA2IIa genes and their association in pathogenesis of endometriosis

Background Endometriosis is a complex gynaecological disorder that contributes to infertility, dysmenorrhea, dyspareunia, and other chronic issues. It is a multifactorial disease involving genetic, hormonal, immunological and environmental components. Endometriosis’s pathogenesis remains unclear. Aim of the study was to analyse the polymorphisms in Interleukin 4, Interleukin 18, FCRL3 and sPLA2IIa genes to identify any significant association with the risk of endometriosis.

This study evaluated the polymorphism of -590 C/T in interleukin- 4(IL-4) gene, C607A in Interleukin − 18(IL-18) gene, -169T > C in FCRL3 gene and 763 C > G in sPLA2IIa gene in women with endometriosis. The case-control study included 150 women with endometriosis and 150 apparently healthy women as control subjects. DNA was extracted from peripheral blood leukocytes and endometriotic tissue of cases and blood samples for controls and further analysed by PCR amplification and then sequencing was carried out to find the allele and genotypes of the subjects and then to analyse the relationship between the gene polymorphisms and endometriosis. To evaluate the association of the different genotypes, 95% confidence intervals (CI) were calculated.

Interleukin − 18 and FCRL3 gene polymorphisms of endometriotic tissue and blood samples of endometriosis (cases) showed significantly associated (OR = 4.88 [95% CI = 2.31–10.30], P > 0.0001) and (OR = 4.00 [95% CI = 2.2–7.33], P > 0.0001) when compared with normal blood samples. However, there was no significant difference in Interleukin − 4 and sPLA2IIa gene polymorphisms between control women and patients with endometriosis.

The present study suggests that the IL-18 and FCRL3 gene polymorphisms are associated with a higher risk for endometriosis, which delivers valuable knowledge of endometriosis’s pathogenesis. However, a larger sample size of patients from various ethnic backgrounds is necessary to evaluate whether these alleles have a direct effect on disease susceptibility. Similar content being viewed by others

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Ethical approval This study was approved by the ethical committee of the Sri Ramachandra Institute of Higher Education and Research (DU) [Ref No.: IEC-NI/17/APR/59/38]. Additional information Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. About this article Cite this article Balunathan, N., Rani G, U., Perumal, V. et al. Single nucleotide polymorphisms of Interleukin − 4, Interleukin-18, FCRL3 and sPLA2IIa genes and their association in pathogenesis of endometriosis. Mol Biol Rep 50, 4239–4252 (2023). https://doi.org/10.1007/s11033-023-08316-5 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s11033-023-08316-5