Farid N R, Barnard J M, Marshall W H, Woolfrey I, O'Driscoll R F
J Clin Endocrinol Metab. 1977 Dec;45(6):1165-72. doi: 10.1210/jcem-45-6-1165.
Ninety-eight members of a large Newfoundland family, seven of whose members over three generations suffered from Graves' disease, were studied with respect to the mode of transmission of the disease and its association with HLA. Compared to Newfoundland communities of similar size and geographical location, very little consanguinity was documented in this family. The susceptibility to Graves' disease appeared to be inherited as a dominant with a variable degree of expressivity; the degree of expressivity being determined by the female sex. In part of the pedigree, the susceptibility to Graves' disease entered the family with a wife. Three of her offspring who subsequently developed Graves' disease shared with her the haplotype A9, Bw16. Of the three remaining affected family members, two shared the haplotype A1, B8, whereas the third carried the haplotypes Aw32,b8; a9,bw16. Graves' disease could be associated with either of these two haplotypes in the last individual. This study shows that the susceptibility to Graves' disease is inherited associated with HLA and that whereas the disease susceptibility gene for Graves' disease is in linkage disequilibrium with HLA-B8 in Caucasians, it can be randomly associated with other HLA-B antigens.
一个纽芬兰大家庭的98名成员参与了研究，该家族三代人中7人患有格雷夫斯病，研究内容包括该病的遗传模式及其与人类白细胞抗原（HLA）的关联。与地理位置和规模相似的纽芬兰社区相比，这个家族中近亲结婚的情况很少。格雷夫斯病的易感性似乎以显性方式遗传，表现度可变；表现度由女性性别决定。在家族谱系的一部分中，格雷夫斯病的易感性是通过一名妻子进入这个家族的。她的三个后来患上格雷夫斯病的后代与她共享单倍型A9、Bw16。在其余三名患病家族成员中，两人共享单倍型A1、B8，而第三人携带单倍型Aw32、b8；a9、bw16。在最后一名个体中，格雷夫斯病可能与这两种单倍型中的任何一种相关。这项研究表明，格雷夫斯病的易感性与HLA相关遗传，并且在白种人中，格雷夫斯病的疾病易感基因与HLA - B8处于连锁不平衡状态，但它也可能与其他HLA - B抗原随机相关。
