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GWAS Study

A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population.

White IR, Kleinstein SE, Praet C et al.

35413058 PubMed ID
GWAS Study Type
302 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

WI
White IR
KS
Kleinstein SE
PC
Praet C
CC
Chamberlain C
MD
McHale D
MJ
Maia JM
XP
Xie P
GD
Goldstein DB
UT
Urban TJ
SP
Shea PR
Chapter II

Abstract

Summary of the research findings

Certolizumab pegol (CZP) is a PEGylated Fc-free tumor necrosis factor (TNF) inhibitor antibody approved for use in the treatment of rheumatoid arthritis (RA), Crohn's disease, psoriatic arthritis, axial spondyloarthritis and psoriasis. In a clinical trial of patients with severe RA, CZP improved disease symptoms in approximately half of patients. However, variability in CZP efficacy remains a problem for clinicians, thus, the aim of this study was to identify genetic variants predictive of CZP response. We performed a genome-wide association study (GWAS) of 302 RA patients treated with CZP in the REALISTIC trial to identify common single nucleotide polymorphisms (SNPs) associated with treatment response. Whole-exome sequencing was also performed for 74 CZP extreme responders and non-responders within the same population, as well as 1546 population controls. No common SNPs or rare functional variants were significantly associated with CZP response, though a non-significant enrichment in the RA-implicated KCNK5 gene was observed. Two SNPs near spondin-1 and semaphorin-4G approached genome-wide significance. The results of the current study did not provide an unambiguous predictor of CZP response.

302 European ancestry cases and controls

Chapter III

Study Statistics

Key metrics and study information

302
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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