Cudworth A G
Diabetologia. 1978 May;14(5):281-91. doi: 10.1007/BF01223018.
The major genetic susceptibility to insulin dependent (Type 1) diabetes is determined by genes in the HLA chromosomal region. An increased relative risk for developing the disease is observed in subjects who are HLA A1, A2, B8, B18, B15, B40, CW3, Bfs, DW3, DW4, DRW3, DRW4 positive. There is an additive relative risk in subjects who possess two "high risk" HLA B alleles which has an important influence on the prevalence of the disease in sibships and possibly on the concordance rate in diabetic identical twins. There is also suggestive evidence that particular combinations of "high risk" HLA B alleles are associated with increased or persistent antibody production which may reflect enhanced or differential susceptibility. Certain factors (e.g. HLA B7, DW2 and DRW2) are associated with a significantly reduced risk and may exert a "protective" mechanism in Type I diabetes, by linkage disequilibrium with genes which reduce immune responsiveness. The significant increases and decreases in respect of the HLA B antigens are probably secondary to the corresponding HLA D and DRW associations which reflect a stronger linkage disequilibrium between the genes which determine these specificities and the putative genes which control susceptibility. Initial damage to the beta cells probably occurs a considerable time before the onset of symptoms and theoretically modification of the immune response early in the disease process may reduce the rate of beta cell destruction.
胰岛素依赖型(1型)糖尿病的主要遗传易感性由HLA染色体区域中的基因决定。在HLA A1、A2、B8、B18、B15、B40、CW3、Bfs、DW3、DW4、DRW3、DRW4呈阳性的个体中,患该疾病的相对风险增加。拥有两个“高风险”HLA B等位基因的个体存在累加相对风险,这对同胞中该疾病的患病率有重要影响,并且可能对同卵双生子糖尿病的一致率也有影响。也有提示性证据表明,“高风险”HLA B等位基因的特定组合与抗体产生增加或持续产生有关,这可能反映了易感性增强或存在差异。某些因素(如HLA B7、DW2和DRW2)与风险显著降低相关,可能通过与降低免疫反应性的基因的连锁不平衡,在1型糖尿病中发挥“保护”机制。HLA B抗原方面的显著增加和减少可能继发于相应的HLA D和DRW关联,这反映了决定这些特异性的基因与控制易感性的假定基因之间更强的连锁不平衡。β细胞的初始损伤可能在症状出现前相当长的时间就已发生,理论上在疾病过程早期改变免疫反应可能会降低β细胞的破坏率。