Division of Internal Medicine and Hepatobiliary Immunopathology Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Milan, Italy; Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA, USA.
J Autoimmun. 2009 Nov-Dec;33(3-4):290-9. doi: 10.1016/j.jaut.2009.07.008. Epub 2009 Aug 13.
Autoimmune diseases are known to have a multifactorial pathogenesis, with both environmental and inherited components. Wide technical progresses together with the completion of the sequencing of human genome have recently allowed the identification of new genetic risk variants in many autoimmune disorders. While part of these studies confirmed previous knowledge, most of the data has disclosed novel and unsuspected roles in the development of autoimmunity for molecules involved in various pathogenic pathways. After the current first wave of data from high-density genome-wide studies, we now need to further characterize these genetic factors and find additional ones, possibly among rare variants. In addition, a role for sex chromosomes in the development of autoimmune diseases has also been suggested. This review will focus on the recent discoveries related to genetics of autoimmunity.
自身免疫性疾病的发病机制被认为是多因素的，既有环境因素，也有遗传因素。广泛的技术进步以及人类基因组测序的完成，最近使得许多自身免疫性疾病中新的遗传风险变异得以确定。虽然这些研究中的一部分证实了以前的知识，但大多数数据揭示了涉及各种致病途径的分子在自身免疫发展中的新的、意想不到的作用。在高密度全基因组研究的首批数据之后，我们现在需要进一步描述这些遗传因素，并寻找可能存在于罕见变异体中的其他遗传因素。此外，性染色体在自身免疫性疾病的发展中也可能发挥作用。这篇综述将重点介绍与自身免疫遗传学相关的最新发现。
