Dorman J S, LaPorte R E, Trucco M
Baillieres Clin Endocrinol Metab. 1991 Jun;5(2):229-45. doi: 10.1016/s0950-351x(05)80125-9.
Many other autoimmune and chronic diseases exhibit marked geographic variation in incidence, which has been attributed to environmental differences across populations (Hutt and Burkitt, 1986). The results of our international IDDM research have provided evidence for the importance of large genetic variations in the frequency of HLA susceptibility genes between racial groups and countries. One may speculate that differences in the prevalence of susceptibility genes for other chronic diseases exist and significantly contribute to the geographic patterns of incidence of these disorders. Other autoimmune diseases are known to have epidemiological features similar to those described for IDDM. Although they are also characterized by an underlying HLA-related susceptibility, environmental factors are known to play an important aetiological role (Tiwari and Terasaki, 1985). DNA polymorphisms of the DR, DQ and DP locus antigens are associated with various autoimmune diseases (Todd et al, 1988; Thorsby et al, 1989). These molecular variations are similar to those described for IDDM, in that they are typically related to the hypervariable regions of the molecule and, thus, affect the peptide binding ability of the antigen. Based on the evidence for IDDM, population differences in the frequency of other HLA susceptibility genes are likely to be major determinants of the geographic distribution of diseases such as rheumatoid arthritis and multiple sclerosis. The epidemiological approach outlined in this review is, thus, applicable to other autoimmune diseases and will significantly contribute to our knowledge of the aetiology of these disorders. The emerging field of molecular epidemiology represents a new research approach which will lead to a better understanding of the relationships between specific risk factors and the aetiology of chronic diseases within populations and across the world.
许多其他自身免疫性疾病和慢性疾病在发病率上呈现出显著的地域差异，这归因于不同人群所处环境的差异（赫特和伯基特，1986年）。我们国际糖尿病研究的结果为种族群体和国家之间HLA易感基因频率存在巨大遗传差异的重要性提供了证据。人们可以推测，其他慢性疾病的易感基因患病率也存在差异，并对这些疾病发病率的地域模式有显著影响。已知其他自身免疫性疾病具有与糖尿病所描述的类似的流行病学特征。尽管它们同样具有潜在的与HLA相关的易感性特征，但环境因素在病因学上起着重要作用（蒂瓦里和寺崎，1985年）。DR、DQ和DP位点抗原的DNA多态性与各种自身免疫性疾病相关（托德等人，1988年；索尔比等人，1989年）。这些分子变异与糖尿病中描述的变异相似，因为它们通常与分子的高变区相关，从而影响抗原的肽结合能力。基于糖尿病的证据，其他HLA易感基因频率的人群差异可能是类风湿性关节炎和多发性硬化症等疾病地理分布的主要决定因素。因此，本综述中概述的流行病学方法适用于其他自身免疫性疾病，并将极大地增进我们对这些疾病病因学的了解。新兴的分子流行病学领域代表了一种新的研究方法，它将有助于更好地理解特定风险因素与世界各地人群中慢性疾病病因之间的关系。
