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Updated: Mar 29, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate
Yogita Ghodke-Puranik1,2, Amrutesh S Puranik1,3, Pooja Shintre4,5
1Interdisciplinary School of Health Sciences, University of Pune, Pune 411007, India.
Aim:
We evaluated the pharmacogenetic influence of genetic polymorphisms in folate pathway genes in Indian rheumatoid arthritis patients receiving methotrexate (MTX).
Patients & Methods:
Twelve polymorphisms within nine folate pathway genes were analyzed for association with MTX response in 322 Indian rheumatoid arthritis (RA) patients and MTX pharmacokinetics in 94 RA patients.
Results:
Polymorphisms in GGH, SHMT1 and TS were associated with MTX-related adverse events while SNPs in MTHFR and RFC1/SLC19A1 were associated with MTX efficacy. TS5'UTR and SHMT1 polymorphisms were associated with higher plasma levels of MTX.
Conclusion:
Polymorphisms in folate-MTX pathway genes contribute to MTX response and affect MTX concentrations in Indian RA patients. A toxicogenetic index could identify patients who develop adverse events to MTX.
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