Caillat-Zucman S, Bertin E, Timsit J, Boitard C, Assan R, Bach J F
I.N.S.E.R.M. U25, Hôpital Necker, Paris.
C R Acad Sci III. 1992;315(13):535-9.
Genetic control of insulin dependent diabetes mellitus (IDDM) is mainly dependent on HLA genes in the major histocompatibility complex (MHC). The participation of TAP1 and TAP2 genes, located in the MHC region and coding for antigenic peptide transporters, was investigated in 116 IDDM patients and 98 normal controls using oligotyping after DNA amplification. The TAP2-B allele had a dominant protective effect, additive to that of the DR2 haplotype but antagonist to the susceptibility associated with the DR3 and/or DR4 haplotypes. The TAP2-A allele, in the homozygous state, had a predisposing effect. TAP1 allelic distribution did not differ among IDDM patients and controls. These data argue in favour of the role of peptide transporter gene in diabetogenesis.
胰岛素依赖型糖尿病(IDDM)的遗传控制主要取决于主要组织相容性复合体(MHC)中的HLA基因。位于MHC区域且编码抗原肽转运蛋白的TAP1和TAP2基因的参与情况,在116例IDDM患者和98例正常对照中通过DNA扩增后的寡核苷酸分型进行了研究。TAP2 - B等位基因具有显著的保护作用,与DR2单倍型的保护作用相加,但与DR3和/或DR4单倍型相关的易感性拮抗。TAP2 - A等位基因在纯合状态下具有易患作用。IDDM患者和对照之间TAP1等位基因分布没有差异。这些数据支持肽转运蛋白基因在糖尿病发生中的作用。