结节病非裔美国人中HLA-DPB1基因多态性分析。

Analysis of HLA-DPB1 polymorphisms in African-Americans with sarcoidosis.

作者信息

Maliarik M J, Chen K M, Major M L, Sheffer R G, Popovich J, Rybicki B A, Iannuzzi M C

机构信息

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, and Department of Biostatistics and Research Epidemiology, Henry Ford Health Sciences Center, Detroit, Michigan, USA.

出版信息

Am J Respir Crit Care Med. 1998 Jul;158(1):111-4. doi: 10.1164/ajrccm.158.1.9708111.

DOI:10.1164/ajrccm.158.1.9708111

PMID:9655715

Abstract

Several studies have found weak associations between certain human leukocyte antigen (HLA) alleles and sarcoidosis, but none have been conclusive. Glutamic acid at position 69 in HLA-DPB1 has been reported to be strongly associated with chronic beryllium disease. The immunopathologic and clinical similarities between chronic beryllium disease (CBD) and sarcoidosis suggest that similar immune-response genes may be involved in susceptibility in both diseases. We analyzed the DNA sequence of HLA-DPB1 exon 2, which contains the hypervariable regions involved in binding antigens, in blood samples from African-American sarcoidosis patients and healthy controls. Results indicate that Val36 (odds ratio [OR] = 2.30) and Asp55 (OR = 2.03) are associated with increased risk for sarcoidosis, but no association with Glu69 was found. These results suggest that although HLA-DPB1 Glu69 is not associated with sarcoidosis, other alleles may make some contribution to susceptibility to sarcoidosis in African-Americans.

摘要

多项研究发现某些人类白细胞抗原（HLA）等位基因与结节病之间存在微弱关联，但均无定论。据报道，HLA-DPB1第69位的谷氨酸与慢性铍病密切相关。慢性铍病（CBD）和结节病在免疫病理学及临床方面的相似性表明，两种疾病的易感性可能涉及相似的免疫反应基因。我们分析了来自非裔美国结节病患者和健康对照者血样中HLA-DPB1外显子2的DNA序列，该外显子2包含参与抗原结合的高变区。结果表明，缬氨酸36（优势比[OR]=2.30）和天冬氨酸55（OR=2.03）与结节病风险增加相关，但未发现与谷氨酸69有关联。这些结果表明，虽然HLA-DPB1谷氨酸69与结节病无关，但其他等位基因可能对非裔美国人结节病的易感性有一定作用。