Sort   by:  
 Page size 
UnknownIdentification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the geneti...
S-EPMC3368627 | biostudies-literature
UnknownAnalysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.

Introduction

The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc).

Methods

In total, 2,670 SSc patients and 3,245 healthy individuals from four European popul...
S-EPMC3446540 | biostudies-literature
UnknownThe systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I ...
S-EPMC3553151 | biostudies-literature
UnknownA genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.

Introduction

A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility va...
S-EPMC3978735 | biostudies-literature
UnknownImplication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility.

Objective

The interleukin 2 (IL-2) and interleukin 21 (IL-21) locus at chromosome 4q27 has been associated with several autoimmune diseases, and both genes are related to immune system functions. The aim of this study was to evaluate the role of the IL-2/IL-21 locus in systemic sclerosis (SS...
S-EPMC3887514 | biostudies-literature
UnknownInfluence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway.

Objectives

TYK2 is a common genetic risk factor for several autoimmune diseases. This gene encodes a protein kinase involved in interleukin 12 (IL-12) pathway, which is a well-known player in the pathogenesis of systemic sclerosis (SSc). Therefore, we aimed to assess the possible role of thi...
S-EPMC7228811 | biostudies-literature
UnknownA GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this ...
S-EPMC3298110 | biostudies-literature
UnknownBrief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies.

Objective

Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date, several shared SSc-RA genetic loci have been identified independently. The aim of the current study was to systematically search for n...
S-EPMC5530728 | biostudies-literature
UnknownA cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease.
Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn's disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we per...
S-EPMC7002703 | biostudies-literature
UnknownIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (lcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence o...
S-EPMC3136437 | biostudies-literature
Sort   by:  
 Page size