Johnson Randall W, Tew Monty B, Arnett Frank C
University of Texas Health Science Center, Department of Internal Medicine, 6431 Fannin MSB 5.260, Houston, TX 77030, USA.
Curr Rheumatol Rep. 2002 Apr;4(2):99-107. doi: 10.1007/s11926-002-0004-2.
The etiopathogenesis of systemic sclerosis (SSc) is unclear. With no definitive evidence supporting an environmental cause, recent attention has focused on genetic factors. Familial clustering and ethnic influences have been demonstrated. Human leukocyte antigen (HLA) associations exist but are more related to the presence of particular autoantibodies rather than to the disease. In addition, no single major histocompatibility complex (MHC) allele predisposes to SSc in all ethnic groups. The role of microchimerism in SSc is a novel yet unproven hypothesis that may be related to intergenerational HLA compatibility. Recent studies investigating polymorphisms in genes coding for extracellular matrix proteins and cell-signaling molecules implicate non-MHC areas in SSc pathogenesis. The data reviewed suggest that SSc is a multigenic complex disorder.
系统性硬化症（SSc）的发病机制尚不清楚。由于没有确凿证据支持环境因素致病，近期研究重点已聚焦于遗传因素。家族聚集性和种族影响已得到证实。人类白细胞抗原（HLA）存在相关性，但更多与特定自身抗体的存在有关，而非与疾病本身相关。此外，没有单一的主要组织相容性复合体（MHC）等位基因会使所有种族的人都易患SSc。微嵌合体在SSc中的作用是一个新颖但未经证实的假说，可能与代际HLA相容性有关。近期对编码细胞外基质蛋白和细胞信号分子的基因多态性进行的研究表明，非MHC区域在SSc发病机制中起作用。综述的数据表明，SSc是一种多基因复杂疾病。
