Department of Rheumatology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Expert Rev Clin Immunol. 2011 Jul;7(4):449-62. doi: 10.1586/eci.11.26.
Systemic sclerosis (SSc) is a severe autoimmune connective tissue disease. Over the years, evidence for a genetic background of SSc susceptibility has clearly accumulated. This article aims to provide an extensive overview of genetics in SSc research. We discuss indicators for a genetic component present in SSc, family studies, chromosomal aberrances, the involvement of the HLA region and multiple candidate genes and, finally, genome-wide association studies.
系统性硬化症（SSc）是一种严重的自身免疫性结缔组织疾病。多年来，SSc 易感性的遗传背景证据明显积累。本文旨在提供 SSc 研究中遗传学的广泛概述。我们讨论了 SSc 中存在遗传成分的指标、家族研究、染色体异常、HLA 区域的参与以及多个候选基因，最后讨论了全基因组关联研究。
