INHERITED SUSCEPTIBILITY TO AUTOIMMUNE ADDISONS-DISEASE IS LINKED TO HUMAN-LEUKOCYTE ANTIGENS-DR3 AND OR DR4, EXCEPT WHEN ASSOCIATED WITH TYPE-I AUTOIMMUNE POLYGLANDULAR SYNDROME
INHERITED SUSCEPTIBILITY TO AUTOIMMUNE ADDISONS-DISEASE IS LINKED TO HUMAN-LEUKOCYTE ANTIGENS-DR3 AND OR DR4, EXCEPT WHEN ASSOCIATED WITH TYPE-I AUTOIMMUNE POLYGLANDULAR SYNDROME
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DOI：
10.1210/jcem-62-3-455
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发表时间：
1986-03-01
影响因子：
5.8
通讯作者：
RILEY, WJ
中科院分区：
文献类型：
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作者：
MACLAREN, NK;RILEY, WJ
发现对自身免疫性艾迪生氏病的遗传敏感性与人类白细胞抗原（HLA）-DR3和DR4等位基因密切相关。在一项针对来自美国患有该疾病的45名白人患者的研究中，相对风险（与没有这种标记的人相比，如果有标记的人有艾迪生氏病风险的次数） DR3等位基因，DR4等位基因和DR3/DR4杂合子分别为6.0、4.6和26.5。与对照人群中的265名患者相比，艾迪生氏病患者中DR2，DR5和DR7的频率显着降低。艾迪生氏病患者中的这些HLA-DR频率与723例胰岛素依赖性糖尿病患者（IDD）相似。但是，即使仅考虑37例未患有IDD的患者的数据，上述HLA-DR协会仍持续存在。在患有DR4和DR3等位基因的23例IDD患者的23例IDD患者中，肾上腺皮质自身抗体同样频繁。相比之下，I型自身免疫性多环综合征（慢性粘膜胶质病，肌张力性疾病，艾迪生氏病等）的17例HLA-DR频率与对照没有差异。我们得出的结论是，自身免疫性添加剂的遗传敏感性可能涉及与IDD相同的HLA相关遗传决定因素，除非Addison'S疾病是I型自身免疫性多角洲综合征的一部分。
The inherited susceptibility to autoimmune Addison''s disease was found to be strongly associated with human leukocyte antigens (HLA)-DR3 and DR4 alleles. In a study of 45 white patients from the United States with the disease, the relative risks (the number of times that an individual is at risk for Addison''s disease if they had a marker, compared to those without such marker) were found to be 6.0, 4.6, and 26.5 for the DR3 allele, the DR4 allele, and for DR3/DR4 heterozygotes, respectively. Frequencies of DR2, DR5, and DR7 in the patients with Addison''s disease were significantly decreased in comparison to 265 individuals in the control population. These HLA-DR frequencies in patients with Addison''s disease were similar to those for 723 patients with insulin-dependent diabetes (IDD). However, the above HLA-DR associations persisted even when only data from the 37 patients with Addison''s disease who did not have IDD were considered. Adrenocortical autoantibodies in 23 patients with IDD who did not have Addison''s disease were equally frequent among those with DR4 and DR3 alleles. In contrast, HLA-DR frequencies in 17 patients with type I autoimmune polyglandular syndrome (chronic mucocutaneous moniliasis, hypoparathyrodism, Addison''s disease, etc.) were not different from control. We conclude that genetic susceptibility to autoimmune Addision''s disease may involve the same HLA-associated genetic determinants as IDD, except when Addison''s disease occurs as part of type I autoimmune polyglandular syndrome.