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Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept
(PLoS, 2019-02-28)
[Abstract] Research in rheumatoid arthritis (RA) is increasingly focused on the discovery of biomarkers that could enable personalized treatments. The genetic biomarkers associated with the response to TNF inhibitors (TNFi) ...
Rheumatoid arthritis response to treatment across IgG1 allotype – anti-TNF incompatibility: a case-only study
(BioMed Central, 2015-03-18)
[Abstract] INTRODUCTION:
We have hypothesized that incompatibility between the G1m genotype of the patient and the G1m1 and G1m17 allotypes carried by infliximab (INX) and adalimumab (ADM) could decrease the efficacy of ...
A single nucleotide polymorphism in the Il17ra promoter is associated with functional severity of ankylosing spondylitis
(PLoS, 2016-07-14)
[Abstract] The aim of this study was to identify new genetic variants associated with the severity of ankylosing spondylitis (AS). We sequenced the exome of eight patients diagnosed with AS, selected on the basis of the ...
Lack of replication of interactions between polymorphisms in rheumatoid arthritis susceptibility: case–control study
(BioMed Central, 2014-09-27)
[Abstract] INTRODUCTION:
Approximately 100 loci have been definitively associated with rheumatoid arthritis (RA) susceptibility. However, they explain only a fraction of RA heritability. Interactions between polymorphisms ...
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
(Nature, 2015-05-21)
[Abstract] Article
Open Access
Published: 21 May 2015
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
Adrian Cortes, Sara L. Pulit, Paul J. ...
Variation at interleukin-6 receptor gene is associated to joint damage in rheumatoid arthritis
(BMC, 2015-09-04)
[Abstract] Introduction. Interleukin-6 (IL-6) cytokine signaling is key in Rheumatoid Arthritis (RA) pathophysiology. Blocking IL-6 receptor (IL6R) has proven to be a highly effective treatment to prevent joint damage. ...
Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus
(BioMed Central, 2014-06-19)
[Abstract] INTRODUCTION:
We aimed to replicate a recent study which showed higher genetic risk load at 15 loci in men than in women with systemic lupus erythematosus (SLE). This difference was very significant, and it was ...
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
(Nature, 2019-10-31)
[Abstract] Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous ...
Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect
(BMJ, 2023-03-17)
[Abstract] Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been ...