Institute of Parasitology and Biomedicine López-Neyra, Consejo Superior de Investigaciones Científicas (IPBLN-CSIC), 18016 Granada, Spain.
Systemic Autoimmune Disease Unit, Hospital Clínico San Cecilio, Instituto de Investigación Biosanitaria ibs.GRANADA, 18016 Granada, Spain.
Genes (Basel). 2020 Dec 9;11(12):1482. doi: 10.3390/genes11121482.
Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them. Nevertheless, the pathological mechanism behind these associations remains a challenge that has just started to be understood thanks to functional genomic approaches. Transcriptomics, regulatory elements, chromatin interactome, as well as the experimental characterization of genomic findings, constitute key elements in the emerging understandings of how genetics affects the etiopathogenesis of IMDs. In this review, we will focus on the latest advances in the field of functional genomics, centering our attention on systemic rheumatic IMDs.
免疫介导性疾病(IMDs)是复杂的病理学,强烈受环境和遗传因素影响。遗传位点与这些疾病易感性之间的关联已得到广泛研究,在过去二十年中出现了数百个风险变异,研究人员观察到它们之间存在共同的遗传模式。然而,这些关联背后的病理机制仍然是一个挑战,由于功能基因组学方法的出现,这个挑战才刚刚开始被理解。转录组学、调控元件、染色质互作组,以及基因组发现的实验特征,是遗传学如何影响 IMDs 的发病机制的新兴理解的关键要素。在这篇综述中,我们将重点关注功能基因组学领域的最新进展,关注系统性风湿性 IMDs。