Boehm B O, Scherbaum W A, Schöffling K, Kühnl P, Althoff P, Manfras B, Usadel K H, Trucco M
Klinikum der Johann Wolfgang Goethe-Universität, Zentrum der Inneren Medizin, Frankfurt am Main.
Klin Wochenschr. 1991 Oct 2;69(15):687-9. doi: 10.1007/BF01649437.
Particular HLA-DQ beta chain alleles were reported as immunogenetic markers of type I diabetes mellitus with young onset of the disease. In a homogeneous German population, we studied HLA-DR specificities and HLA-DQ beta chain alleles in young-onset (less than 21 years of age; n = 185) and adult-onset (greater than 40 years of age; n = 48) insulin-dependent diabetics. In both cohorts of type I diabetics, the HLA-DR3 and -DR4 specificities were significantly increased. The presence of an HLA haplotype with an amino acid other than aspartic acid at position 57 of the DQ beta chain was significantly associated with type I diabetes in both cohorts (etiologic fraction: 93% and 73%). We conclude that the presence of DNA sequences coding for an amino acid other than aspartic acid at the 57th position of the DQ beta chain provides a molecular risk marker for type I diabetes of both and adult onset.
特定的HLA - DQβ链等位基因被报道为早发型I型糖尿病的免疫遗传标记。在一个同质化的德国人群中,我们研究了早发型(小于21岁;n = 185)和成人发病型(大于40岁;n = 48)胰岛素依赖型糖尿病患者的HLA - DR特异性和HLA - DQβ链等位基因。在这两组I型糖尿病患者中,HLA - DR3和 - DR4特异性均显著增加。在DQβ链第57位存在编码除天冬氨酸以外氨基酸的HLA单倍型,在两组患者中均与I型糖尿病显著相关(病因分数:93%和73%)。我们得出结论,在DQβ链第57位编码除天冬氨酸以外氨基酸的DNA序列的存在,为早发型和成人发病型I型糖尿病提供了一个分子风险标记。