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
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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.
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页码:13 / 20
页数:7
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