Related Experiment Video

Updated: Mar 11, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.4K

ATIC missense variant affects response to methotrexate treatment in rheumatoid arthritis patients

Mateusz Kurzawski1, Damian Malinowski1, Natalia Szarmach1

  • 1Department of Experimental & Clinical Pharmacology, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland.

Pharmacogenomics
|November 26, 2016
PubMed
Abstract

Insights

A specific gene variant in the ATIC gene (rs2372536) is linked to better treatment response in rheumatoid arthritis patients receiving methotrexate therapy.

Area of Science:

  • Pharmacogenomics
  • Molecular biology
  • Rheumatology

Background:

  • Methotrexate (MTX) is a cornerstone therapy for rheumatoid arthritis (RA).
  • Individual responses to MTX vary significantly, impacting treatment efficacy.
  • Folate pathway enzymes are crucial for MTX metabolism and action.

Purpose of the Study:

  • To investigate the association between gene variants in folate pathway enzymes and MTX treatment response in RA patients.
  • To identify genetic markers that predict MTX efficacy in rheumatoid arthritis.

Main Methods:

  • Genotyping of single nucleotide polymorphisms (SNPs) in DHFR, FPGS, and ATIC genes in 422 Caucasian RA patients.
  • Classification of patients into good and poor responders based on MTX treatment outcomes.
  • Statistical analysis including univariate and multivariate approaches.

Main Results:

  • No significant associations were found for DHFR and FPGS gene variants.
  • The GG minor genotype of ATIC rs2372536 (Thr116Ser) was significantly associated with a good response to MTX (OR: 2.40; p = 0.005).
  • This association was confirmed by multivariate analysis, indicating its predictive value.

Conclusions:

  • The ATIC missense SNP rs2372536 may serve as a predictive biomarker for MTX response in rheumatoid arthritis.
  • Genetic variations in the folate pathway, particularly in ATIC, play a role in MTX treatment outcomes.
  • Further research can explore this SNP for personalized MTX dosing strategies in RA.
Keywords:
folate pathwaymethotrexaterheumatoid arthritis

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K
Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors06:07

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

Published on: August 5, 2022

3.2K

Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
6.9K
Mismatch Repair01:36

Mismatch Repair

Overview
44.5K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
61
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
81
Translation01:31

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
21.4K
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
159.0K