Genetic basis of systemic sclerosis.
- Author:
Jia YU
1
;
Ya-Gang ZUO
;
Qiu-Ning SUN
Author Information
1. Department of Dermatology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
- Publication Type:Journal Article
- MeSH:
Fibrillins;
Genetic Predisposition to Disease;
Humans;
Microfilament Proteins;
genetics;
Polymorphism, Genetic;
Protein Tyrosine Phosphatases;
genetics;
Scleroderma, Systemic;
genetics;
Tumor Necrosis Factor-alpha;
genetics
- From:
Acta Academiae Medicinae Sinicae
2009;31(1):97-102
- CountryChina
- Language:Chinese
-
Abstract:
Systemic sclerosis (SSc) is a connective tissue disease characterized by extensive fibrosis, vasculopathy, and activation of the immune system. Its pathogenesis and mechanisms have not been identified. Studies have shown that environmental and genetic factors are involved in the pathogenesis and development of SSc. Although the concordance for the disease among identical twins is low, concordance for antoantibodies associated with SSc and for fibroblast gene expression profiles is higher. However, the candidate-gene approach has not established clear associations between polymorphisms and SSc. Based on the involvement of SSc, the candidate gene can be screened from three groups: fibrosis, immune response, and vascular disease. This article summarizes the recent advances in these three aspects.
