Kelly H, McCann V J, Kay P H, Dawkins R L
Immunogenetics. 1985;22(6):643-51. doi: 10.1007/BF00430313.
107 patients with insulin-dependent diabetes mellitus (IDDM) were typed for HLA A, B, C-, and DR antigens, and for complement C4A, C4B, and Bf alleles, and the results were compared with those of a combined reference group of 332 appropriately matched healthy subjects. Supratypes (allelic combinations) were identified from the phenotype of each group, and it was shown that the frequency of several supratypes is increased in patients with IDDM, in particular supratypes (A1 Cw7) B8 C4AQ0 C4B1 BfS DR3 (P = 0.0001), (A30 Cw-) B18 C4A3 C4BQ0 BfF1 DR3 (P = 0.0003), (A2 Cw3) B62 C4AR C4B2.9 BfS DR4 (P = 0.0002), and three other supratypes including DR4. It was also shown that increases in the frequency of individual alleles are secondary to increases in supratype frequency. Moreover, supratypes appeared to interact; the presence of two relevant supratypes being particularly important. The absolute risk of IDDM was approximately 0.5 in subjects who were homozygous for B18 C4A3 C4BQ0 BfF1 DR3. We concluded that genetic susceptibility is best recognized by MHC supratypes rather than isolated alleles, and that supratype combinations make the identification of even greater disease risk possible.
对107例胰岛素依赖型糖尿病（IDDM）患者进行了HLA A、B、C和DR抗原分型，以及补体C4A、C4B和Bf等位基因分型，并将结果与332名匹配得当的健康对照组成员的结果进行了比较。从每组的表型中确定了超型（等位基因组合），结果显示，几种超型在IDDM患者中的频率增加，特别是超型（A1 Cw7）B8 C4AQ0 C4B1 BfS DR3（P = 0.0001）、（A30 Cw-）B18 C4A3 C4BQ0 BfF1 DR3（P = 0.0003）、（A2 Cw3）B62 C4AR C4B2.9 BfS DR4（P = 0.0002），以及包括DR4在内的其他三种超型。还显示，单个等位基因频率的增加是超型频率增加的继发结果。此外，超型之间似乎存在相互作用；存在两种相关超型尤为重要。对于B18 C4A3 C4BQ0 BfF1 DR3纯合的受试者，IDDM的绝对风险约为0.5。我们得出结论，遗传易感性最好通过MHC超型而非单个等位基因来识别，并且超型组合使得识别更高的疾病风险成为可能。
