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ORIGINAL RESEARCH article

Front. Med.
Sec. Obstetrics and Gynecology
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1495002
This article is part of the Research Topic Endometriosis: Updates on the Etiology, Pathophysiology, Measurements and Therapeutics View all 10 articles

NOD1, NOD2, PYDC1, and PYDC2 Gene Polymorphisms in Ovarian Endometriosis: A Cross-Sectional Study

Provisionally accepted
Hakan KULA Hakan KULA *Balbal Beste Balbal Beste Timur Tunc Timur Tunc Yalcin Pelin Yalcin Pelin ONUR YAVUZ ONUR YAVUZ Kızıldag Sefa Kızıldag Sefa Ulukus Emine Cagnur Ulukus Emine Cagnur Posacı Cemal Posacı Cemal
  • Dokuz Eylül University, Alsancak, Türkiye

The final, formatted version of the article will be published soon.

    Background: Endometriosis, a prevalent chronic gynecologic disorder, significantly impacts women's health, with both genetic and environmental factors contributing to its heritability. Within the adaptive immune system, the NOD-like receptors (NLR) pathway plays pivotal roles in various autoinflammatory diseases, regulating interleukins, proinflammatory cytokines, and NF-κB activity. However, the potential association between single nucleotide polymorphisms (SNPs) of the NOD1, NOD2, PYDC1, and PYDC2 genes and the predisposition to endometriosis risk remains unexplored.In this cross-sectional study, 54 patients diagnosed with ovarian endometriosis and 54 control subjects were included. The genetic SNPs of NOD1 (rs2075820 and rs2075818) and NOD2 (rs104895461) were assessed using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. Additionally, the polymorphisms of PYDC1 and PYDC2 were evaluated using Sanger sequencing. After conducting polymorphism analysis, the genetic profiles were assessed with the clinical manifestations and the size of ovarian endometriomas, categorized as either small (<4 cm) or large (≥4 cm).Significant differences in the NOD1 rs2075820 (G: A) genotypes were found. The GG genotype was more prevalent in endometriosis patients(p=0.04), while the GA genotype was less common(p=0.029). The AA genotype was associated with higher rates of perimenstrual gastrointestinal symptoms(p=0.005) and infertility(p=0.037). The PYDC2 rs293833 variant was detected in 22.2% of patients. Carriers of this variant exhibited higher rates of perimenstrual gastrointestinal symptoms (p=0.004), infertility (p=0.001) and larger endometriomas (≥4cm) (p<0.001). No significant differences were found in NOD1 rs2075818 genotypes (p=0.89) and no polymorphisms were detected in NOD2 or PYDC1 genes.These findings emphasize the influence of genetic polymorphisms on the clinical manifestations of endometriosis. Specifically, gene polymorphisms in NLRs have been found to significantly impact infertility and increase endometrioma size.

    Keywords: Endometriosis, Infertility, Pain, gene polymorphism, NOD, PYDC

    Received: 11 Sep 2024; Accepted: 24 Dec 2024.

    Copyright: © 2024 KULA, Beste, Tunc, Pelin, YAVUZ, Sefa, Cagnur and Cemal. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Hakan KULA, Dokuz Eylül University, Alsancak, Türkiye

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