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:A total of 2,670 SSc patients and 3,245 healthy individuals from 4 European populations (Spain, Germany, The Netherlands and Italy) were included in the study. A total of 5 single nucleotide polymorphisms (SNPs) of the CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped using a predesigned TaqMan allele discrimination assay technology. Meta-analysis was assessed to determine whether there is an association between the genetic variants and SSc or its main clinical subtypes.RESULTS:No evidence of association between CD40 and CD40LG genes variants with susceptibility of SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serological features and pulmonary fibrosis.CONCLUSIONS:Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility or clinical expression of SSc.

Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.

LUNARDI, Claudio;
2012

Abstract

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:A total of 2,670 SSc patients and 3,245 healthy individuals from 4 European populations (Spain, Germany, The Netherlands and Italy) were included in the study. A total of 5 single nucleotide polymorphisms (SNPs) of the CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped using a predesigned TaqMan allele discrimination assay technology. Meta-analysis was assessed to determine whether there is an association between the genetic variants and SSc or its main clinical subtypes.RESULTS:No evidence of association between CD40 and CD40LG genes variants with susceptibility of SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serological features and pulmonary fibrosis.CONCLUSIONS:Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility or clinical expression of SSc.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/429629
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