Genome-wide association study of response to methotrexate in early rheumatoid arthritis patients

Pharmacogenomics J. 2018 Jul;18(4):528-538. doi: 10.1038/s41397-018-0025-5. Epub 2018 May 25.

Abstract

Methotrexate (MTX) monotherapy is a common first treatment for rheumatoid arthritis (RA), but many patients do not respond adequately. In order to identify genetic predictors of response, we have combined data from two consortia to carry out a genome-wide study of response to MTX in 1424 early RA patients of European ancestry. Clinical endpoints were change from baseline to 6 months after starting treatment in swollen 28-joint count, tender 28-joint count, C-reactive protein and the overall 3-component disease activity score (DAS28). No single nucleotide polymorphism (SNP) reached genome-wide statistical significance for any outcome measure. The strongest evidence for association was with rs168201 in NRG3 (p = 10-7 for change in DAS28). Some support was also seen for association with ZMIZ1, previously highlighted in a study of response to MTX in juvenile idiopathic arthritis. Follow-up in two smaller cohorts of 429 and 177 RA patients did not support these findings, although these cohorts were more heterogeneous.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antirheumatic Agents / adverse effects
  • Antirheumatic Agents / therapeutic use*
  • Arthritis, Rheumatoid / drug therapy*
  • Arthritis, Rheumatoid / genetics
  • Arthritis, Rheumatoid / physiopathology
  • C-Reactive Protein / genetics
  • Genome-Wide Association Study*
  • Humans
  • Methotrexate / adverse effects
  • Methotrexate / therapeutic use*
  • Neuregulins / genetics
  • Severity of Illness Index
  • Transcription Factors / genetics

Substances

  • Antirheumatic Agents
  • NRG3 protein, human
  • Neuregulins
  • Transcription Factors
  • ZMIZ1 protein, human
  • C-Reactive Protein
  • Methotrexate