ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Diabetes: Molecular Mechanisms
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1664411
This article is part of the Research TopicGenetic Mechanisms in Diabetes PathogenesisView all 12 articles
Association of TNF-α Polymorphisms rs1800629 (−308G>A) and rs361525 (−238G>A) with Type 2 Diabetes Mellitus in the Punjabi Population of Pakistan
Provisionally accepted
Muhammad Waqar1
Tsai-Sung Tai2
Abdul Qadeer3
Umar Aziz4Mohammad Abohassan5
Chien-Chin Chen6*
Sawar Khan3*- 1The University of Lahore, Lahore, Pakistan
- 2Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan
- 3School of Life Science, Central South University, Changsha, China
- 4Northwest A&F University, Yangling, China
- 5College of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia
- 6Department of Pathology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi 600, Taiwan
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Background: The TNF‐α -promoter polymorphisms rs1800629 (−308G>A) and rs361525 (−238G>A) have been variably associated with type 2 diabetes mellitus (T2DM) risk in different populations. This study evaluated these two polymorphisms in a cohort of Punjabi individuals from Pakistan. Methods: A case–control study was conducted including 100 clinically diagnosed T2DM patients and 100 healthy controls. Genotyping of TNF‐α rs1800629 and rs361525 was performed using allele‐ specific ARMS-PCR and validated by sequencing. Allele and genotype frequencies were compared between groups, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated, and Hardy– Weinberg equilibrium was assessed. Results: The A alleles of rs1800629 and rs361525 were significantly more frequent in T2DM cases compared to controls (3.68% vs. 0.54%, OR = 6.779, p = 0.037 for rs1800629; 5.26% vs. 0.53%, OR = 9.684, p = 0.006 for rs361525). Fasting blood sugar level (FBS) of 150 ± 45 mg/dL was recorded in diabetic subjects. Multivariate and forest plot analyses supported the association of both variants with increased T2DM risk. Control group genotypes conformed to Hardy-Weinberg equilibrium, validating population stability. Conclusion: In this Punjabi cohort from Pakistan, the A alleles of TNF-α promoter polymorphisms rs1800629 and rs361525 were significantly more frequent in T2DM cases, indicating that these variants increase susceptibility to T2DM in this population.
Keywords: type 2 diabetes mellitus, TNF-α promoter polymorphism, Genetic association, Punjabi population, Rs361525, rs1800629
Received: 11 Jul 2025; Accepted: 23 Oct 2025.
Copyright: © 2025 Waqar, Tai, Qadeer, Aziz, Abohassan, Chen and Khan. 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:
Chien-Chin Chen, hlmarkc@gmail.com
Sawar Khan, drsawarkhan@gmail.com
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