ORIGINAL RESEARCH article
Front. Med.
Sec. Rheumatology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1660473
This article is part of the Research TopicUnraveling the Role of Innate Immune Cells in Rheumatic DiseaseView all 3 articles
Association of ABCB1 and MTHFR genetic polymorphisms with rheumatoid arthritis susceptibility in a Chinese population
Provisionally accepted
- 1Lanzhou University First Hospital, Lanzhou, China
- 2Wuhan University, Wuhan, China
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Objective The present study aimed to investigate the association of the ATP-binding cassette subfamily B member 1 (ABCB1) 3435C/T and methylenetetrahydrofolate reductase (MTHFR) 677C/T and 1298A/C polymorphisms with susceptibility to RA and RA subtype. Methods We enrolled 85 RA patients and 45 healthy individuals in this study. Genotyping for ABCB1 3435C/T, MTHFR 677C/T and 1298A/C was performed using fluorescence in situ hybridization technology (FISH) . Results No significant differences in the genotype and allele frequeny distributions of ABCB1 3435C/T, MTHFR 1298A/C or MTHFR677C/T were detected between patients with RA and healthy individuals (p>0.05). Logistic regression analysis, after adjusting for sex and age, showed that the MTHFR677C/T TT genotype was associated with increased susceptibility to RA compared with the CC genotype (TT versus CC, P=0.034, OR=2.316; 95%CI=1.067-5.029); however, after Bonferroni correction, the association between the MTHFR677C/T TT genotype and RA susceptibility was no longer significant. that MTHFR 677C/T genotype frequency (CT versus CC, P=0.040, OR=6.504; 95% CI=1.087-38.935) and dominant model (CT+TT versus CC, P=0.025, OR=6.556; 95% CI=1.272-33.799) was associated with ACPA status among RA patients; and that MTHFR 677C/T genotype frequency (TT versus CC, P=0.044, OR=2.171; 95% CI=1.020-4.623) and codominant model (CC versus CT versus TT, P=0.026, OR=2.059; 95% CI=1.089-3.891) were associated with RF status among RA patients; Similarly, the associations observed in ACPA-positive and RF-positive subgroups also lost significance after Bonferroni correction. Conclusion MTHFR 677C/T RA polymorphisms were associated with the susceptibility to RA and RA subtypes; ABCB1 3435C/T and MTHFR 1298A/C were not associated with the susceptibility to RA or RA subtypes.
Keywords: ATP binding cassette-related transporter B1, Methylene tetrahydrofolate reductase, Arthritis, Rheumatoid, Polymorphism, Single Nucleotide, Chinese
Received: 06 Jul 2025; Accepted: 22 Sep 2025.
Copyright: © 2025 Chen, Wu, Dong and Li. 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: Jirong Wu, 13037139639@163.com
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