Abstract
Background: 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.
Patients and methods: 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.
Results: 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.
Conclusions: 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.
Keywords
Array
Array
Array
Array
Array
References
The published articles will be distributed under the Creative Commons Attribution 4.0 International License (CC BY). It is allowed to copy and redistribute the material in any medium or format, and remix, transform, and build upon it for any purpose, even commercially, as long as appropriate credit is given to the original author(s), a link to the license is provided and it is indicated if changes were made. Users are required to provide full bibliographic description of the original publication (authors, article title, journal title, volume, issue, pages), as well as its DOI code. In electronic publishing, users are also required to link the content with both the original article published in Journal of Medical Biochemistry and the licence used.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.