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GWAS Study

Genome-wide association study of liver enzyme elevation in rheumatoid arthritis patients starting methotrexate.

Sundbaum JK, Baecklund E, Eriksson N et al.

34521259 PubMed ID
GWAS Study Type
354 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SJ
Sundbaum JK
BE
Baecklund E
EN
Eriksson N
KH
Kohnke H
WM
Wallenberg M
CM
Cavalli M
WC
Wadelius C
WM
Wadelius M
HP
Hallberg P
Chapter II

Abstract

Summary of the research findings

Aim: To identify novel genetic variants predisposing to elevation of Alanine aminotransferase (ALT) in rheumatoid arthritis (RA) patients after initiation of methotrexate (MTX) treatment. Patients & methods: We performed genome-wide association studies in 198 RA patients starting MTX. Outcomes were maximum level of ALT and ALT >1.5-times the upper level of normal within the first 6 months of treatment. Results:RAVER2 (rs72675408) was significantly associated with maximum level of ALT (p = 4.36 × 10-8). This variant is in linkage disequilibrium with rs72675451, which is associated with differential expression of JAK1 and RAVER2. Conclusion: We found an association between ALT elevation and genetic variants that may regulate the expression of JAK1 and RAVER2. JAK1 encodes a janus kinase involved in the pathogenesis of RA.

194 individuals

Chapter III

Study Statistics

Key metrics and study information

354
Total Participants
GWAS
Study Type
Yes
Replicated
160 individuals
Replication Participants
Sweden
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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