Genetic Susceptibility to Interstitial Lung Disease Associated with Systemic Sclerosis

Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine

Review

Hisashi Yamanaka¹  Yasushi Kawaguchi¹  Akiko Tochimoto¹ 

[1] Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.;

关键词: systemic sclerosis;    scleroderma;    interstitial lung disease;    genetics;    CTGF;   

DOI  :  10.4137/CCRPM.S23312

 received in 2015-06-29, accepted in 2015-01-14,  发布年份 2015

来源: Sage Journals

【 摘 要 】

Systemic sclerosis (SSc) is a connective tissue disease that is characterized by tissue fibrosis, microvasculopathy, and autoimmunity. Interstitial lung disease (ILD) is a common complication of SSc and is one of the frequent causes of mortality in SSc. Although the exact etiology of SSc remains unknown, clinical and experimental investigations have suggested that genetic and environmental factors are relevant to the pathogenesis of SSc and SSc-ILD. More than 30 genes have been identified as susceptibility loci for SSc, most of which are involved in immune regulation and inflammation. It is thought that the key pathogenesis of SSc-ILD is caused by the release of profibrotic mediators such as transforming growth factor β1 and connective tissue growth factor from lung cells induced by a persistent damage. This review presents the genetic susceptibility to SSc-ILD, including human leukocyte antigen and non-human leukocyte antigen genes, especially focusing on connective tissue growth factor.

【 授权许可】

CC BY-NC   
© 2015 SAGE Publications.

【 图 表 】

Figure 2.