A distinct HLA-DRw8 haplotype characterizes patients with juvenile rheumatoid arthritis.
A distinct HLA-DRw8 haplotype characterizes patients with juvenile rheumatoid arthritis.
复制标题
幼年类风湿性关节炎患者具有独特的 HLA-DRw8 单倍型特征。
DOI：
10.1007/bf00211643
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发表时间：
1990
期刊：
影响因子：
3.2
通讯作者：
Glass,DN
中科院分区：
文献类型：
--
作者：
VanKerckhove,C;Melin-Aldana,H;Elma,MS;Luyrink,L;Donnelly,P;Taylor,J;Maksymowych,WP;Lovell,DJ;Choi,E;Glass,DN
我们研究了67名HLA-DRw 8阳性的白种人的HLA-DRB 1、HLA-DQA 1和HLA-DQB 1基因座的第一结构域，其中包括43名早发性少关节幼年型类风湿关节炎（EOPA-JRA，也称为早发性少关节幼年型慢性关节炎）患者。血清学、限制性片段长度多态性（RFLP）和聚合酶链反应（PCR）寡核苷酸分型结果显示，62例EOPA-JRA患者携带HLA-DRB 1 *0801、DQA 1 *0401、DQB 1 * 0402基因型。大约五分之一的对照者在其HLA-DRw 8单倍型上携带有经家族研究证实的HLA-DRB 1、HLA-DQA 1和/或HLA-DQB 1位点。HLA-DRB 1、DQA 1和DQB 1等位基因的DNA序列在患者和对照者中与以前报道的完全相同。对113例EOPA-JRA患者和207例对照者进行的HLA-DRw 8相关性研究显示，HLA-DRB 1 *0801、DQA 1 *0401、DQB 1 * 0402基因型与疾病的相对危险度（RR）较高相关（RR = 12.8，χ2= 48.8，P < 10−4）高于血清学确定的HLA-DRw 8（RR = 8，χ2= 39，P< 10−4）。进一步分析表明，HLA-DRw 8单倍型上的DQ基因与DR基因一样可能参与EOPA-JRA的发病。本研究将在白种人中鉴定的HLA-DR/DQ单倍型增加到5种。
We studied the first domain of theHLA-DRB1,HLA-DQA1, andHLA-DQB1loci of 67 HLA-DRw8-positive Caucasians including 43 with early-onset pauciarticular juvenile rheumatoid arthritis (EOPA-JRA, alternatively known as early-onset pauciarticular juvenile chronic arthritis). Serology, restriction fragment length polymorphism (RFLP), and polymerase chain reaction (PCR) oligotyping revealed that 62, including all the EOPA-JRA patients, carried theHLA-DRB1*0801, DQA1*0401, DQB1*0402genotype. Approximately onefifth of the controls carried atypicalHLA-DRB1, HLA-DQA1, and/orHLA-DQB1loci on theirHLA-DRw8haplotype confirmed by family studies. DNA sequences ofHLA-DRB1, DQA1,andDQB1alleles in patients and controls were identical to those previously reported. Disease association studies in 113 EOPA-JRA patients and 207 controls unselected for HLA-DRw8 revealed that theHLA-DRB1*0801, DQA1*0401, DQB1*0402genotype was associated with a higher relative risk (RR) for disease (RR = 12.8, χ2= 48.8,P< 10−4) than was the serologically defined presence of HLA-DRw8 (RR = 8, χ2= 39,P< 10−4). Further analysis suggested that theDQgenes onHLA-DRw8haplotypes are as likely as theDRgenes to contribute to the pathogenesis of EOPA-JRA. This study increases to five the number ofHLA-DR/DQhaplotypes identified inHLA-DRw8Caucasians.