Frecker M, Stenszky V, Balazs C, Kozma L, Kraszits E, Farid N R
Clin Endocrinol (Oxf). 1986 Nov;25(5):479-85. doi: 10.1111/j.1365-2265.1986.tb03599.x.
We investigated the distribution of HLA and immunoglobulin G heavy chain markers (Gm) in 117 patients with Graves' disease, 62 with ophthalmopathy and 55 without. With Graves' disease per se, there is a closer association with HLA-DR3 than with B8. The opposite was true for Graves' patients with ophthalmopathy (odds ratio for ophthalmopathy associated with B8 was 12.4 and with DR3 was 7.7, both with P less than 0.0005). HLA-DR7 interacts with B8 in modifying the risk for eye disease; using the phenotype B8- DR7- as reference, the odds ratios were 16.7 for B8+ DR7+, 8.7 for B8+ DR7- and 0.26 for B8- DR7+. Thus, DR7 enhanced the risk for ophthalmopathy in the presence of B8+ but had a protective influence in its absence. Although Gm showed no association with eye disease, it modified the risk for ophthalmopathy associated with HLA-B8; the odds ratios were 20.9 for B8+ Gmfb homozygozity (fb+), 15.3 for B8+ fb- and 1.7 for B8- fb+ (B8- fb- = 1.00). We conclude that the genetic factors contributing to Graves' ophthalmopathy are different from those related to liability for Graves' hyperthyroidism.
我们研究了117例格雷夫斯病患者、62例伴有眼病的患者和55例不伴有眼病的患者的人类白细胞抗原（HLA）和免疫球蛋白G重链标记（Gm）的分布情况。就格雷夫斯病本身而言，与HLA - DR3的关联比与B8的关联更紧密。而伴有眼病的格雷夫斯病患者情况则相反（与B8相关的眼病优势比为12.4，与DR3相关的为7.7，两者P值均小于0.0005）。HLA - DR7与B8相互作用，改变眼部疾病风险；以B8 - DR7 - 表型为参照，B8 + DR7 + 的优势比为16.7，B8 + DR7 - 为8.7，B8 - DR7 + 为0.26。因此，DR7在B8 + 存在时增加眼病风险，但在其不存在时具有保护作用。虽然Gm与眼病无关联，但它改变了与HLA - B8相关的眼病风险；B8 + Gmfb纯合子（fb +）的优势比为20.9，B8 + fb - 为15.3，B8 - fb + 为1.7（B8 - fb - = 1.00）。我们得出结论，导致格雷夫斯眼病的遗传因素与格雷夫斯甲状腺功能亢进易感性的遗传因素不同。
