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GWAS Study

Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.

Cobb J, Cule E, Moncrieffe H et al.

24709693 PubMed ID
GWAS Study Type
694 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CJ
Cobb J
CE
Cule E
MH
Moncrieffe H
HA
Hinks A
US
Ursu S
PF
Patrick F
KL
Kassoumeri L
FE
Flynn E
BM
Bulatović M
WN
Wulffraat N
VZ
van Zelst B
DJ
de Jonge R
BM
Bohm M
DP
Dolezalova P
HS
Hirani S
NS
Newman S
WP
Whitworth P
ST
Southwood TR
DI
De Iorio M
WL
Wedderburn LR
TW
Thomson W
Chapter II

Abstract

Summary of the research findings

Clinical response to methotrexate (MTX) treatment for children with juvenile idiopathic arthritis (JIA) displays considerable heterogeneity. Currently, there are no reliable predictors to identify non-responders: earlier identification could lead to a targeted treatment. We genotyped 759 JIA cases from the UK, the Netherlands and Czech Republic. Clinical variables were measured at baseline and 6 months after start of the treatment. In Phase I analysis, samples were analysed for the association with MTX response using ordinal regression of ACR-pedi categories and linear regression of change in clinical variables, and identified 31 genetic regions (P<0.001). Phase II analysis increased SNP density in the most strongly associated regions, identifying 14 regions (P<1 × 10(-5)): three contain genes of particular biological interest (ZMIZ1, TGIF1 and CFTR). These data suggest a role for novel pathways in MTX response and further investigations within associated regions will help to reach our goal of predicting response to MTX in JIA.

694 European ancestry child cases

Chapter III

Study Statistics

Key metrics and study information

694
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Czech Republic, Netherlands, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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