Hong G H, Kim H Y, Takeuchi F, Nakano K, Yamada H, Matsuta K, Han H, Tokunaga K, Ito K, Park K S
Department of Biology, Sungshin Womens University, Seoul, Korea.
J Rheumatol. 1994 Mar;21(3):442-7.
To examine the association of complement C4 and HLA-DR to systemic lupus erythematosus (SLE) susceptibility in Korea.
Complement C4 protein typing was carried out by immunofixation and immunoblotting methods using EDTA-plasma from 60 patients with SLE and 72 healthy controls. Restriction fragment length polymorphism analysis of C4 genes was also carried out using TaqI or HindIII for restriction enzymes. HLA-DR was determined by polymerase chain reaction amplification with sequence specific primers using genomic DNA from 67 patients with SLE and 72 healthy controls.
The frequency of the C4AQ0 allele was significantly higher in the patients with SLE than in controls (41.7 vs 25.0%, p < 0.05). The deletion of the C4A gene commonly found in Caucasian patients with SLE was not observed in any patients. For HLA-DR, a significant increase of the haplotype DRB1*1501 was observed in the patients (26.9 vs 12.5%, p < 0.05) and DR9 was also significantly increased (23.9 vs 11.1%, p < 0.05). An increase in each DR2 and DR9 was independent of an increase in C4AQ0. The frequencies of DR2 and DR9 were significantly decreased in patients with renal involvement and alopecia, respectively.
Our data suggested that the presence of C4AQ0 allele, DRB11501-DRB50101 haplotype and DR9 contributed to susceptibility to SLE in Koreans and that Korean SLE is based on a different genetic background from Caucasian patients.
研究补体C4和人类白细胞抗原DR（HLA - DR）与韩国系统性红斑狼疮（SLE）易感性的关联。
采用免疫固定和免疫印迹法，对60例SLE患者和72例健康对照者的乙二胺四乙酸（EDTA）血浆进行补体C4蛋白分型。还使用TaqI或HindIII作为限制性内切酶，对C4基因进行限制性片段长度多态性分析。采用序列特异性引物聚合酶链反应扩增法，对67例SLE患者和72例健康对照者的基因组DNA进行HLA - DR检测。
SLE患者中C4AQ0等位基因频率显著高于对照组（41.7%对25.0%，p < 0.05）。在任何患者中均未观察到白种人SLE患者中常见的C4A基因缺失。对于HLA - DR，患者中观察到单倍型DRB1*1501显著增加（26.9%对12.5%，p < 0.05），DR9也显著增加（23.9%对11.1%，p < 0.05）。DR2和DR9各自的增加与C4AQ0的增加无关。肾脏受累和脱发患者中DR2和DR9的频率分别显著降低。
我们的数据表明，C4AQ0等位基因、DRB11501 - DRB50101单倍型和DR9的存在与韩国人SLE易感性有关，且韩国SLE基于与白种人患者不同的遗传背景。
