The Genetics of Scleroderma

被引:0
作者
Javier Martin
Carmen Fonseca
机构
[1] CSIC,Centre for Rheumatology
[2] Instituto de Parasitología y Biomedicina López Neyra,undefined
[3] University College Medical School,undefined
来源
Current Rheumatology Reports | 2011年 / 13卷
关键词
Genetics; Systemic sclerosis; Scleroderma; Polymorphisms; Autoimmunity;
D O I
暂无
中图分类号
学科分类号
摘要
The importance of the genetic component in the pathogenesis of scleroderma, or systemic sclerosis, has been strengthened in the past 2 years with studies on genetic markers–either candidate gene or genome-wide association studies—in large case–control series. Multiple genes have been consistently associated with susceptibility to scleroderma, and interestingly, several of them are involved in immune regulation. Because many of these genes are shared with other autoimmune diseases, a common underlying autoimmune mechanism has been proposed. The challenge that lies ahead is to confirm these associations and to find markers or pathways that are unique to scleroderma and that may define its distinctive phenotype.
引用
收藏
页码:13 / 20
页数:7
相关论文
共 134 条
[11]  
Dieude P(2010)Novel sequence feature variant type analysis of the HLA genetic association in systemic sclerosis Hum Mol Genet 19 707-719
[12]  
Boileau C(2008)Molecular subsets in the gene expression signatures of scleroderma skin PLoS One 3 e2696-598
[13]  
Radstake TR(2010)Systemic sclerosis and lupus: points in an interferon-mediated continuum Arthritis Rheum 62 589-2479
[14]  
Gorlova O(2009)STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis Arthritis Rheum 60 2472-992
[15]  
Rueda B(2010)Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity J Rheumatol 37 987-1850
[16]  
Zhou X(2009)Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population Arthritis Rheum 60 1845-2077
[17]  
Lee JE(2009)The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype Hum Mol Genet 18 2071-1376
[18]  
Arnett FC(2009)Association of STAT4 polymorphism with systemic sclerosis in a Japanese population Ann Rheum Dis 68 1375-3806
[19]  
Agarwal SK(2009)Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines Arthritis Rheum 60 3794-3454
[20]  
Tan FK(2009)BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4 Arthritis Rheum 60 3447-705