HLA DR3阴性系统性红斑狼疮患者主要组织相容性复合体的家系研究
Family study of the major histocompatibility complex in HLA DR3 negative patients with systemic lupus erythematosus.
作者信息
Batchelor J R, Fielder A H, Walport M J, David J, Lord D K, Davey N, Dodi I A, Malasit P, Wanachiwanawin W, Bernstein R
机构信息
Department of Immunology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
出版信息
Clin Exp Immunol. 1987 Nov;70(2):364-71.
Susceptibility to systemic lupus erythematosus (SLE) is known to be governed by genes in the HLA region of the 6th chromosome. From previous studies it has not been possible to distinguish between the effects of null genes for the complement component C4 and HLA-DR3, because of the marked linkage disequilibrium between DR3 and a null allele of C4A (C4A QO) in caucasoid populations. We report here an immunogenetic study of 44 cases of SLE, selected because they were DR3 negative. Eighteen of the 30 Caucasoid cases (60%) had extended HLA haplotypes with a C4 null allele, compared with 22 of 60 (37%) of a control panel of 60 DR3 negative normal Caucasoid subjects. This difference is significant (chi 2 = 4.41; 0.05 greater than P greater than 0.01). Of 14 non-caucasoid patients analysed, 10 had a C4 null allele. It is concluded that the null alleles of the C4 A and B genes are themselves directly responsible for conferring susceptibility to SLE.
已知系统性红斑狼疮（SLE）的易感性由第6号染色体HLA区域中的基因控制。从先前的研究中，由于在高加索人群中DR3与C4A的无效等位基因（C4A QO）之间存在明显的连锁不平衡，因此无法区分补体成分C4无效基因和HLA - DR3的影响。我们在此报告一项对44例SLE患者的免疫遗传学研究，这些患者因DR3阴性而被选入。30例高加索患者中有18例（60%）具有带有C4无效等位基因的扩展HLA单倍型，而在60名DR3阴性的正常高加索对照受试者组成的对照组中，这一比例为60例中的22例（37%）。这种差异具有统计学意义（卡方 = 4.41；0.05＞P＞0.01）。在分析的14名非高加索患者中，有10例具有C4无效等位基因。结论是，C4 A和B基因的无效等位基因本身直接导致SLE易感性。
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