The role of IL‑16 gene polymorphisms in endometriosis

Michail Matalliotakis, Maria I Zervou, Elias Eliopoulos, Charoula Matalliotaki, Nilüfer Rahmioğlu, Nilufer Rahmioglu, Ioannis Kalogiannidis, Krina T. Zondervan, Krina Zondervan, Demetrios�� Spandidos, Demetrios A Spandidos, Ioannis Matalliotakis, George N Goulielmos
International journal of molecular medicine · 2018 · vol. 41(3) , pp. 1469–1476 · doi:10.3892/ijmm.2018.3368 · PMID:29328375 · PMC5819913 · W2783682780
article OA: gold CC0 ⤵ 12 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study investigated the association between IL-16 gene polymorphisms rs4072111 and rs11556218 and endometriosis in Greek women, finding a significant link between rs11556218 and the disease.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-09 ⓘ

This paper evaluated whether two IL‑16 gene single-nucleotide polymorphisms (rs4072111 and rs11556218) are associated with endometriosis risk and/or progression to severe stages in a Greek case-control cohort. Using PCR-RFLP genotyping in 159 surgically and histologically confirmed endometriosis patients (stages I–IV) and 146 normal controls, the study found a significant association for rs11556218, specifically the GG/GT genotypes and the G allele, while rs4072111 showed no association with susceptibility either overall or for stages III–IV. Bioinformatics analysis of the SNP-derived Pro‑IL‑16 protein sequences suggested that rs11556218 could influence IL‑16 expression or protein function, but the paper’s genetic association results are limited to this single population and rely on a candidate-gene approach. This paper is centrally about endometriosis — it tests IL‑16 gene polymorphisms as genetic risk factors for the disorder in Greek women.

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Abstract

Endometriosis is one of the most common gynecological diseases affecting up to 10% of the female population of childbearing age and a major cause of pain and infertility. It is influenced by multiple genetic, epigenetic and environmental factors. Interleukin‑16 (IL‑16) is a proinflammatory cytokine playing a pivotal role in many inflammatory and autoimmune diseases as well as in the pathogenesis of endometriosis. The aim of the present study was to evaluate the association of two IL‑16 gene single nucleotide polymorphisms (SNPs), rs4072111 and rs11556218, with the risk of endometriosis in women from Greece as well as to gain insight about the structural consequences of these two exonic SNPs regarding development of the disease. A total of 159 women with endometriosis (stages I‑IV) hospitalized for endometriosis, diagnosed by laparoscopic intervention and histologically confirmed, and 146 normal controls were recruited and genotyped. Subjects were genotyped using a polymerase chain reaction restriction fragment length polymorphism (PCR‑RFLP) strategy. A significant association was detected regarding the GG and GT genotype as well as 'G' allele of rs11556218 in patients with endometriosis. The rs4072111 SNP of the IL‑16 gene was not found to be associated with an increased susceptibility to endometriosis either for all patients (stages I‑IV) or for stage III and IV of the disease only. Our results demonstrated that rs11556218 is associated with endometriosis in Greek women, probably by resulting in the aberrant expression of IL‑16, as suggested by the bioinformatics analysis conducted on the SNP‑derived protein sequences, which indicated a possible association between mutation and functional modification of Pro‑IL‑16.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Interleukin-16 Polymorphism, Single Nucleotide Adult Case-Control Studies Endometriosis Female Gene Frequency Humans Interleukin-16 Interleukin-16 Models, Molecular Polymorphism, Single Nucleotide Protein Domains Protein Structure, Secondary

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