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硬皮病及其在不同人群中遗传因素的差异
引用本文:楚海燕.硬皮病及其在不同人群中遗传因素的差异[J].复旦学报(医学版),2011,38(3):257-264.
作者姓名:楚海燕
作者单位:1复旦大学生命科学学院现代人类学教育部重点实验室上海200433; 2复旦大学附属华山医院皮肤科,4风湿科上海200040;3上海市中西医结合医院硬皮病科上海200433; 5复旦大学风湿免疫过敏性疾病研究中心,上海200040
基金项目:国家自然科学基金面上项目,上海市科委 "科技创新行动计划"基础研究重点科技项目
摘    要:硬皮病是一种复杂的自身免疫性疾病,其主要特征有微血管受损和组织器官纤维化,根据其发病累及范围不同,主要分为系统性硬皮病和局限性硬皮病两种类型.硬皮病发病症状复杂,发病机制不明,导致治疗效果不甚理想.硬皮病发病有家族聚集现象及种族差异,表明硬皮病具有遗传易感性.近年来许多研究集中于寻找硬皮病发病的遗传因素,并已发现有多种...

关 键 词:硬皮病  发病机制  遗传因素  种族差异

Scleroderma and the differences in genetic factors among different race and ethnic groups
CHU Hai-yan.Scleroderma and the differences in genetic factors among different race and ethnic groups[J].Fudan University Journal of Medical Sciences,2011,38(3):257-264.
Authors:CHU Hai-yan
Institution:1,5(1Ministry of Education Key Laboratory of Contemporary Anthropology,School of Life Sciences,Fudan University,Shanghai 200433,China;2Department of Dermatology;4Department of Rheumatology,Huashan Hospital,Fudan University,Shanghai 200040,China;3Division of Scleroderma,Shanghai Traditional Chinese Medicine-Integrated Hospital,Shanghai 200433,China;5Institute of Rheumatology,Immunology and Allergy,Fudan University,Shanghai 200040,China)
Abstract:Scleroderma is a complex autoimmune disease that mainly characterized by microvascular alteration and fibrosis of the skin and visceral organs.There are two major subgroups according to the implicative range of scleroderma:localized scleroderma and systemic sclerosis.Scleroderma is a syndrome with various phenotypes.The pathogenesis remains unclear and the therapeutic outcome has been poor so far.Familial clustering and differences in phenotypes among race and ethnic groups suggest that genetic factors contribute to scleroderma.Recently,many studies focused on genetic factors and have identified a lot of genes/pathways that are involved in the pathogenesis.However,in the studies of scleroderma among different races,the reports about the polymorphisms of candidate genes are partly conflicting.Therefore,the genetic factors may be closely related with the etiology of scleroderma.
Keywords:scleroderma  pathogenesis  genetic factors  race difference
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