MTHFR gene polymorphisms and their biochemical associations with serum vitamin D and IL-17 in ulcerative colitis.

Authors

Guang Chen, Meihong Yan, Xiaoyang Hu, Hanfei Xu, Shengai Piao

Published in

Journal of medical biochemistry. Volume 45. Issue 5. Pages 1131-1139. May 22, 2026.

Abstract

Disturbances in homocysteine metabolism and immune-inflammatory pathways may contribute to the pathogenesis of ulcerative colitis (UC). Methylenetetrahydrofolate reductase (MTHFR) plays a central biochemical role in homocysteine remethylation, and its genetic variants may influence downstream biomarkers such as vitamin D and interleukin-17 (IL-17). This study examined the associations of three MTHFR polymorphisms (rs110298, rs132981, rs167281) with UC susceptibility, disease characteristics, and related biochemical markers.
A total of 124 UC patients and 128 healthy controls were enrolled. Genotyping of MTHFR SNPs was performed by PCR amplification followed by ligase detection reaction. Serum 25-hydroxyvitamin D was measured using electrochemiluminescence immunoassay, and IL-17 levels were quantified by ELISA. Associations between MTHFR genotypes, UC onset, disease location, severity, and biochemical markers were statistically evaluated.
All polymorphisms conformed to Hardy-Weinberg equilibrium. The rs110298 GG genotype and rs132981 TT genotype were significantly more frequent in UC patients than controls (P < 0.05), whereas rs167281 showed no association with UC. Both rs110298 and rs132981 were linked to UC disease location and severity (P < 0.05). UC patients exhibited significantly reduced serum vitamin D and elevated IL-17 levels compared with controls (P < 0.05). Importantly, rs110298 (AG/GG) and rs132981 (TT) genotypes were associated with lower vitamin D and higher IL-17 concentrations in UC patients (P < 0.05), indicating a biochemical effect of MTHFR variants on inflammatory and immunomodulatory pathways.
MTHFR polymorphisms rs110298 and rs132981 are significantly associated with UC susceptibility and clinical phenotype and exert measurable biochemical effects on serum vitamin D and IL-17 levels. These findings highlight the potential value of MTHFR-related pathways as biomarkers for disease characterization and as mechanistic contributors to UC-related immune dysregulation.

PMID:
42781488
Bibliographic data and abstract were imported from PubMed on 25 Sep 2026.

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