Jarjour W, Reed A M, Gauthier J, Hunt S, Winfield J B
Thurston Arthritis Research Center, University of North Carolina at Chapel Hill 27599, USA.
Hum Immunol. 1996 Jan;45(1):59-63. doi: 10.1016/0198-8859(95)00153-0.
SLE is dramatically more prevalent in persons of African descent than in other populations. Several genes in the class III region of the MHC have been considered as potential susceptibility loci for this disorder, but the primary association(s) remains unknown. The stress protein gene, hsp70-2, is of special interest in this regard because it encodes a protein functionally relevant to antigen processing and presentation and has itself been identified as a putative susceptibility locus in organ-specific autoimmune diseases in Caucasians. To clarify the relationship of the hsp70-2 gene to SLE in African Americans, genomic DNA from 46 patients and 42 appropriately matched control subjects was analyzed for an RFLP of the hsp70-2 gene using the probe pH2.3 and the restriction endonuclease PstI, which identifies alleles of 8.5 and 9.0 kb. The 8.5-kb hsp70-2 allele was associated with SLE in this population (X2 = 8.2473, p = 0.0044). This association was not due to linkage disequilibrium with the C4A deletion or with HLA-DR3, as has been reported in Caucasians with IDDM. These data suggest that the 8.5-kb hsp70-2 allele may be an independent susceptibility marker for SLE in African Americans.
系统性红斑狼疮（SLE）在非洲裔人群中的患病率显著高于其他人群。MHCⅢ类区域中的几个基因被认为是该疾病的潜在易感基因座，但主要的关联基因仍不明确。应激蛋白基因hsp70 - 2在这方面特别受关注，因为它编码一种与抗原加工和呈递功能相关的蛋白质，并且其本身已被确定为高加索人器官特异性自身免疫性疾病的一个假定易感基因座。为了阐明hsp70 - 2基因与非裔美国人SLE的关系，使用探针pH2.3和限制性内切酶PstI对46例患者和42例匹配的对照受试者的基因组DNA进行分析，以检测hsp70 - 2基因的限制性片段长度多态性（RFLP），该酶可识别8.5 kb和9.0 kb的等位基因。在该人群中，8.5 kb的hsp70 - 2等位基因与SLE相关（X2 = 8.2473，p = 0.0044）。这种关联并非如在患有胰岛素依赖型糖尿病（IDDM）的高加索人中所报道的那样，是由于与C4A缺失或HLA - DR3的连锁不平衡所致。这些数据表明，8.5 kb的hsp70 - 2等位基因可能是非裔美国人SLE的一个独立易感标记。
