Division of Rheumatology, Allergy, and Clinical Immunology, University of California, Davis, USA.
J Autoimmun. 2012 Dec;39(4):249-52. doi: 10.1016/j.jaut.2012.07.011. Epub 2012 Sep 11.
The higher concordant occurrence of autoimmune diseases in monozygotic twins compared to dizygotic or sibling pairs supports the role for genetic susceptibility. For most conditions, however, concordance rates are considerably below 100% and lead to the estimate of the weight of genetics coined "heritability". In the group of autoimmune diseases heritability ranges between 0.008 and 1 with median values of approximately 0.60. A complementary term coined "environmentability" represents the environmental influence on individual phenotype, and can include dietary habits, chemicals, or hygienic conditions. Genome-wide association data in complex diseases confirmed a role for the environment in disease etiology as significantly associated polymorphisms were found only in subgroups of patients and controls. Environmental links to autoimmunity range from anecdotal associations or case series to largely investigated experimental and epidemiological studies. A bibliographic analysis reveals that the number of publications dedicated to environmental factors in autoimmunity has grown on average by 7% every year since 1997. The National Institute of Environmental Health Sciences (NIEHS) convened an expert panel workshop to review the body of literature examining the role of the environment in the development of autoimmune disease and to identify conclusions, confidences, and critical knowledge gaps in this area. The results of the workshop discussion are summarized in the articles found in this issue of the Journal of Autoimmunity.
自身免疫性疾病在同卵双胞胎中的一致性发生率高于异卵或同胞对,这支持了遗传易感性的作用。然而,对于大多数疾病,一致性率远低于 100%,这导致了遗传权重的估计,即“遗传性”。在自身免疫性疾病组中,遗传性在 0.008 到 1 之间,中位数约为 0.60。一个互补的术语“环境易感性”代表了环境对个体表型的影响,它可以包括饮食习惯、化学物质或卫生条件。复杂疾病的全基因组关联数据证实了环境在疾病病因学中的作用,因为只有在患者和对照组的亚组中才发现与疾病显著相关的多态性。环境与自身免疫之间的联系从轶事关联或病例系列到广泛研究的实验和流行病学研究都有。文献分析表明,自 1997 年以来,专门研究环境因素与自身免疫性疾病关系的出版物数量每年平均增长 7%。美国国家环境卫生科学研究所(NIEHS)召集了一个专家小组研讨会,审查了检查环境在自身免疫性疾病发展中作用的文献,并确定了该领域的结论、可信度和关键知识空白。研讨会讨论的结果总结在本期《自身免疫杂志》中的文章中。