Tuomilehto-Wolf E, Tuomilehto J
Department of Epidemiology, National Public Health Institute, Helsinki, Finland.
Ann Med. 1991;23(5):481-8. doi: 10.3109/07853899109150507.
Diabetes mellitus is largely determined by genetic factors but environmental factors are necessary to convert genetic susceptibility into overt disease. Studies of twins show that the genetic impact in non-insulin-dependent diabetes mellitus is stronger than in insulin-dependent diabetes mellitus. The genetic factors involved in non-insulin-dependent diabetes mellitus are not known and the outcome of molecular genetic research has so far been disappointing. The major genetic susceptibility to insulin-dependent diabetes mellitus is conferred by genes in the HLA region on chromosome 6. Despite many advances in molecular genetics in insulin-dependent diabetes mellitus the serologically detectable HLA antigens and haplotypes are still the best available markers. This review describes the important developments in immunogenetics in insulin-dependent diabetes mellitus and summarises the main findings from earlier studies. Genetically the potential for primary prevention of insulin-dependent diabetes mellitus already exists and will become a reality as soon as the environmental determinants are identified. A wide application of immunogenetic methods will be needed in the prevention of insulin-dependent diabetes mellitus.
糖尿病很大程度上由遗传因素决定,但环境因素对于将遗传易感性转化为显性疾病是必要的。对双胞胎的研究表明,非胰岛素依赖型糖尿病中的遗传影响比胰岛素依赖型糖尿病更强。非胰岛素依赖型糖尿病所涉及的遗传因素尚不清楚,迄今为止分子遗传学研究的结果令人失望。胰岛素依赖型糖尿病的主要遗传易感性由6号染色体上HLA区域的基因赋予。尽管胰岛素依赖型糖尿病在分子遗传学方面取得了许多进展,但血清学可检测的HLA抗原和单倍型仍然是现有的最佳标志物。本综述描述了胰岛素依赖型糖尿病免疫遗传学的重要进展,并总结了早期研究的主要发现。从遗传学角度来看,胰岛素依赖型糖尿病一级预防的潜力已经存在,一旦确定环境决定因素,这将成为现实。在胰岛素依赖型糖尿病的预防中需要广泛应用免疫遗传学方法。