Bossini-Castillo Lara, López-Isac Elena, Mayes Maureen D, Martín Javier
Consejo Superior de Investigaciones Científicas (IPBLN-CSIC), Instituto de Parasitología y Biomedicina López-Neyra, PTS Granda, Granada, Spain.
Semin Immunopathol. 2015 Sep;37(5):443-51. doi: 10.1007/s00281-015-0499-z. Epub 2015 Jun 2.
Systemic sclerosis (SSc) is connective tissue disorder in which fibrosis of the skin and internal organs is the main hallmark. Despite the difficulties of studying a complex disease, significant advances have been achieved in the SSc genetics field. In this review, we will describe the firmest genetic susceptibility markers known to date. We will analyze the most recent findings in the HLA region and in non-HLA genes. Furthermore, we will propose functional connections of these loci with the mechanisms involved in SSc pathogenesis. However, only non-HLA genetic regions that have been associated with SSc at the genome-wide significance level or that have been reported to be associated with the disease in at least two different independent studies will be considered. In spite of the increasing number of SSc genetic susceptibility factors identified, further studies with larger sample sizes, deeper phenotype characterization of the patients and innovative analyses will be needed to translate SSc genetics into clinical practice and patient care in the future.
系统性硬化症（SSc）是一种结缔组织疾病，其主要特征是皮肤和内脏器官纤维化。尽管研究这种复杂疾病存在困难，但在SSc遗传学领域已取得了重大进展。在本综述中，我们将描述迄今为止已知的最确凿的遗传易感性标记。我们将分析HLA区域和非HLA基因的最新研究结果。此外，我们将提出这些基因座与SSc发病机制中所涉及机制的功能联系。然而，仅考虑在全基因组显著水平上与SSc相关或在至少两项不同的独立研究中被报道与该疾病相关的非HLA遗传区域。尽管已鉴定出的SSc遗传易感性因素数量不断增加，但未来仍需要进行更大样本量的进一步研究、对患者进行更深入的表型特征分析以及创新性分析，以便将SSc遗传学转化为临床实践和患者护理。
