COMPLEMENT ALLOTYPING IN SLE - ASSOCIATION WITH C4A NULL
COMPLEMENT ALLOTYPING IN SLE - ASSOCIATION WITH C4A NULL
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DOI：
10.1111/j.1445-5994.1983.tb02699.x
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发表时间：
1983-01-01
期刊：
影响因子：
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通讯作者：
ZILKO, PJ
中科院分区：
文献类型：
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作者：
CHRISTIANSEN, FT;DAWKINS, RL;ZILKO, PJ
免疫遗传因素在系统性红斑狼疮（SLE）中很重要，许多补体成分的缺乏通常与狼疮样疾病有关。补体成分Bf、C2和C4在人主要组织相容性复合体（MHC）内编码，并且是多态性的。本文对43例SLE患者进行了HLA、Bf和C_4基因多态性的研究，以确定C_2和C_4部分缺乏是否可能是疾病的易感因素，并因为它可以更好地确定与疾病相关的重要超类型，其中可能包括相关的疾病基因。SLE患者C4A无效等位基因频率增加，C4A无效基因频率最低估计值为0.32 vs. 0.20，但未发现部分C2缺陷病例。这些结果可能表明部分C4缺乏的直接作用，或者C4A缺失可能是一个重要超型的标记，其中包括相关的疾病基因。
Immunogenetic factors are important in systemic lupus erythematosus (SLE) and deficiency of a number of complement components is often associated with a lupus-like illness. The complement components Bf, C2 and C4 are encoded within the human major histocompatibility complex (MHC), and are polymorphic. A study of HLA, Bf and C4 polymorphism in 43 patients with SLE was undertaken to determine whether partial deficiency of C2 and C4 may predispose to disease, and because it may allow the better definition of important supratypes associated with the disease and which may include the relevant disease gene(s). An increased frequency of C4A null alleles has been shown in SLE, with a minimal estimated C4A null gene frequency of 0.32 vs. 0.20, but no case of partial C2 deficiency was identified. The results may indicate a direct role for partial C4 deficiency or that C4A null may be a marker for an important supratype whicn includes the relevant disease gene(s).