人类白细胞抗原-DPB1第69位谷氨酸：铍病的一种遗传标志物。

HLA-DPB1 glutamate 69: a genetic marker of beryllium disease.

作者信息

Richeldi L, Sorrentino R, Saltini C

机构信息

Postgraduate School of Cardiorespiratory Physiopathology, University of Roma, Italy.

出版信息

Science. 1993 Oct 8;262(5131):242-4. doi: 10.1126/science.8105536.

DOI:10.1126/science.8105536

PMID:8105536

Abstract

Chronic beryllium disease (CBD) is a lung disorder related to beryllium exposure and is characterized by the accumulation in the lung of beryllium-specific CD4+ major histocompatibility complex (MHC) class II-restricted T lymphocytes. Evaluation of MHC class II genes in 33 CBD cases and 44 controls has shown a negative association with HLA-DPB10401 (P < 0.001) and a positive association with HLA-DPB10201 (P < 0.05) alleles, which differ at residues 36, 55 to 56, and 69 of the beta 1 chain. Among CBD cases, 97 percent expressed the HLA-DPB1*0201-associated glutamic acid (unaffected population, 30 percent; P < 0.001) at residue 69, a position involved in susceptibility to autoimmune disorders. This suggests that HLA-DP has a role in conferring susceptibility and that residue 69 of HLA-DPB1 could be used in risk assessment for CBD.

摘要

慢性铍病（CBD）是一种与铍暴露相关的肺部疾病，其特征是铍特异性CD4 + 主要组织相容性复合体（MHC）II类限制性T淋巴细胞在肺部积聚。对33例CBD病例和44例对照的MHC II类基因评估显示，其与HLA-DPB10401呈负相关（P < 0.001），与HLA-DPB10201等位基因呈正相关（P < 0.05），这两个等位基因在β1链的第36、55至56和69位残基处存在差异。在CBD病例中，97%在第69位残基处表达了与HLA-DPB1*0201相关的谷氨酸（未受影响人群中为30%；P < 0.001），该位置与自身免疫性疾病的易感性有关。这表明HLA-DP在赋予易感性方面起作用，并且HLA-DPB1的第69位残基可用于CBD的风险评估。