Dausset J, Hors J, Contu L, Busson M, Schmid M, Cathelineau G, Lestradet H, Baron D
Diabete Metab. 1979 Dec;5(4):313-9.
The study of a hundred and fifteen unrelated insulin-dependent diabetes and eight families with at least two insulin-dependent diabetes members made it possible to confirm the higher frequency of HLA-B8 and B18 (p less than 0.001) among patients, producing a RR of 2.24 and 2.47 respectively. The increased B15 frequency did not achieve statistical significance. B18 whose gametic association (delta = 0.0438) was significant only in diabetic patients was often related to Aw19-2 (Aw30 + Aw31). The B8/B18 genotype gave a relative risk (RR = 4.98) which was significantly higher than that of B8, B18 and B15 heterozygotes (1.50, 1.24 and 1.39 respectively). Pairs of diabetic siblings were more frequently HLA identical than would be expected by chance, and distribution of the pairs of affected sibs into the three categories, identical, semi-identical and different, was closer to the recessive model than to the dominant one. The fact that the B8/B18 individuals had a RR slightly higher than the B8 and B18 homozygotes and distinctly higher than the heterozygotes for only one of these genes, favours the hypothesis of two dominant genes, giving the appearance of recessivity. The gene associated with B18 in Southern Europe seems to play the same part as that of the gene associated with B15 in Northern Europe.
对115例非亲属胰岛素依赖型糖尿病患者以及8个至少有两名胰岛素依赖型糖尿病成员的家庭进行研究后发现,能够确认患者中HLA - B8和B18的频率更高(p小于0.001),其相对风险(RR)分别为2.24和2.47。B15频率的增加未达到统计学显著性。B18的配子关联(δ = 0.0438)仅在糖尿病患者中具有显著性,且常与Aw19 - 2(Aw30 + Aw31)相关。B8/B18基因型的相对风险(RR = 4.98)显著高于B8、B18和B15杂合子(分别为1.50、1.24和1.39)。糖尿病同胞对的HLA相同频率高于随机预期,且受累同胞对分为相同、半相同和不同这三类的分布更接近隐性模型而非显性模型。B8/B18个体的RR略高于B8和B18纯合子,且明显高于仅其中一个基因的杂合子,这一事实支持了两个显性基因的假说,呈现出隐性的表象。在南欧与B18相关的基因似乎与在北欧与B15相关的基因发挥相同的作用。