Page 27 - GPD-4-3

Gene & Protein in Disease

REVIEW ARTICLE
TNFA gene polymorphisms and the risk of

endometriosis: An updated meta-analysis of
genetic association studies

Amrit Sudershan 1,2 , Showkat Ahmad Malik 3 , Srishty Sudershan 4 ,
Agar Chander Pushap 5 , Mohd Anis Ganaie 3 , Irfan Ahmad Bhat 3 ,
Feroze Ahmed Dar 3 , Bashir Ahmad Sheikh 3 , Mehraj Bashir 3 ,
1,6
Showkat Ahmad Najar 3 , Mohd Younis 1,6 , and Parvinder Kumar *
1 Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, India
2 Department of Human Genetics, Sri Pratap College, Cluster University Srinagar, Kashmir, Jammu and
Kashmir, India
3 Department of Zoology, Sri Pratap College, Cluster University Srinagar, Kashmir, Jammu and Kashmir,
India
4 Department of Zoology, Central University Jammu, Samba, Jammu and Kashmir, India
5 Department of Education, Welcome to Dakshina Bharat Hindi Prachar Sabha, Madras, India
6 Department of Zoology, University of Jammu, Jammu, Jammu and Kashmir, India

Abstract
*Corresponding author: The tumor necrosis factor-alpha (TNFA) gene plays a pivotal role in modulating
Parvinder Kumar
(drparvinderkumar@ inflammatory responses, and its variants have been hypothesized to influence
jammuuniversity.ac.in) susceptibility to endometriosis, a complex and multifactorial gynecological
Citation: Sudershan A, Malik SA, condition. Among the notable polymorphisms investigated are -238 G>A, -308
Sudershan S, et al. TNFA gene G>A, -850 C>T, -857 C>T, -863 C>A, and -1031 T>C. Despite substantial research,
polymorphisms and the risk of the evidence regarding their role as genetic risk factors for endometriosis remains
endometriosis: An updated meta-
analysis of genetic association inconclusive. To address this uncertainty, the present study conducted a systematic
studies. Gene Protein Dis. review of the literature to evaluate the association between TNFA variants and
2025;4(3):5204. endometriosis risk. A comprehensive search of electronic databases was performed
doi: 10.36922/gpd.5204
to identify relevant studies. Data extraction and quality assessment were carried out
Received: October 19, 2024 using the Newcastle-Ottawa Scale. Pooled odds ratios and 95% confidence intervals
Revised: January 2, 2025 were calculated across various genetic models, with adjustments for multiple
comparisons using the Bonferroni correction. Trial sequential analysis (TSA) was
Accepted: January 9, 2025
employed to determine the required sample size for conclusive results, and Egger’s
Published online: January 24, test was used to assess publication bias. The analysis included 18 studies examining
2025 different TNFA polymorphisms, but no significant associations with endometriosis
Copyright: © 2025 Author(s). risk were identified. TSA revealed that the existing sample sizes were inadequate
This is an Open-Access article to detect definitive links. While the findings suggest that upstream variants of the
distributed under the terms of the
Creative Commons Attribution TNFA gene are not associated with endometriosis risk, this does not conclusively rule
License, permitting distribution, out a role for TNFA in the disease pathogenesis. Further research involving larger,
and reproduction in any medium, ethnically diverse populations is warranted to confirm these results and provide
provided the original work is
properly cited. deeper insights into the genetic factors contributing to endometriosis.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: Endometriosis; Tumor necrosis factor-alpha; Endometriosis; Gene
regard to jurisdictional claims in
published maps and institutional polymorphism
affiliations.

Volume 4 Issue 3 (2025) 1 doi: 10.36922/gpd.5204