A study of human leukocyte D locus related antigens in Graves' disease.
A study of human leukocyte D locus related antigens in Graves' disease.
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格雷夫斯病中人类白细胞 D 位点相关抗原的研究。
DOI：
10.1172/jci109263
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发表时间：
1979
期刊：
影响因子：
--
通讯作者：
N. Carter
中科院分区：
文献类型：
--
作者：
N. Farid;L. Sampson;E. Noel;J. Barnard;R. Mandeville;B. Larsen;W. Marshall;N. Carter
格雷夫斯病与人类白细胞抗原（HLA）系统之间的关联此前已有报道。该疾病与HLA D位点抗原Dw3的相关性强于与HLA B8的相关性。HLA - D基因座的产物是通过测试细胞与标准分型淋巴细胞的相互作用来确定的，这是一个技术上困难的过程。最近，已经有可能对外周血骨髓源性淋巴细胞的D位点相关（DRw）特异性进行血清学分型。对50例不相关对照和41例Graves病患者的血液B淋巴细胞进行7种HLA DRw特异性分型。28例Graves病患者（68%）DRw3阳性，对照组14例（28%）；而只有21例（50%）患者HLA B8阳性，而对照组13例（26%）。因此，DRw3阳性患者患Graves病的相对风险为5.5，而HLA B8阳性患者患Graves病的相对风险为3.0。此外，一个有多个格雷夫斯病病例的家庭与DRw2有关，该疾病先前被证明是单倍型遗传的，这表明对该疾病的易感性是与该抗原相关的遗传。在该家族中观察到两次HLA B/乙二醛酶重组事件；在这两种情况下，HLA DRw都先于HLA b。本研究表明Graves病的疾病易感基因与DRw3存在强烈的连锁不平衡；然而，它可能与其他DRw特异性相关，并在与它们相关的家庭单位内遗传。
An association between Graves' disease and the human leukocyte antigen (HLA) system has previously been reported. The disease was more strongly associated with the HLA D locus antigen Dw3 than with HLA B8. Products of the HLA D locus are determined by the interaction of test cells with standard typing lymphocytes, a technically difficult procedure. Recently, it has been possible to type serologically for D locus related (DRw) specificities on peripheral bone marrow-derived (B) lymphocytes. Blood B lymphocytes from 50 unrelated controls and 41 patients with Graves' disease were typed for seven HLA DRw specificities. 28 patients with Graves' disease (68%) were positive for DRw3, in contrast to 14 controls (28%); whereas only 21 patients (50%) were HLA B8 positive, compared with 13 (26%) controls. Thus, positivity for DRw3 afforded a relative risk for Graves' disease of 5.5, whereas that for HLA B8 amounted to 3.0. Additionally, a family with multiple cases of Graves' disease in which the disease was previously shown to be inherited with the haplotype, was linked to DRw2, which suggests that the susceptibility to the disease was inherited in association with that antigen. Two HLA B/glyoxalase recombination events were observed in this family; in both instances HLA DRw followed HLA B. This study thus demonstrates that the disease susceptibility gene for Graves' disease is in strong linkage disequilibrium with DRw3; however, it may be associated with other DRw specificities and inherited within family units in association with them.