Donn R P, Davies E J, Holt P L, Thomson W, Ollier W
ARC/ERU, Manchester University, United Kingdom.
Ann Rheum Dis. 1994 Apr;53(4):261-4. doi: 10.1136/ard.53.4.261.
To determine whether polymorphisms of the TAP genes, which lie within the major histocompatibility complex (MHC), are associated with juvenile chronic arthritis (JCA).
Eighty five JCA patients and 166 white controls were typed for the TAP gene alleles using ARMS-PCR. The same populations were analysed for DRB1 and DPB1 alleles using PCR-SSO typing.
TAP2B was increased in early onset pauciarticular JCA (EOPA-JCA) compared with controls (62% v 44% Odds ratio (OR) 2.1, 95% CI 0.9-4.7). After allowing for the known linkage disequilibrium between TAP2B and DR1 the association of TAP2B and EOPA-JCA was maintained (OR 3.5, 95% CI 1.3-9.7). HLA-DRB1*04 and TAP2D were found to be in linkage disequilibrium in both the control (delta 0.018 p < 0.05) and JCA patient groups (delta 0.021 p < 0.05). No linkage disequilibrium was found between the TAP and DPB1 alleles.
The association between TAP2B and EOPA-JCA is a further indication of the heterogeneity which exists in this clinically defined subgroup of patients.
确定位于主要组织相容性复合体(MHC)内的TAP基因多态性是否与青少年慢性关节炎(JCA)相关。
采用扩增阻滞突变系统聚合酶链反应(ARMS-PCR)对85例JCA患者和166名白人对照进行TAP基因等位基因分型。使用聚合酶链反应-序列特异性寡核苷酸分型(PCR-SSO分型)对相同人群的DRB1和DPB1等位基因进行分析。
与对照组相比,早发性少关节型JCA(EOPA-JCA)中TAP2B增加(62%对44%,优势比(OR)2.1,95%可信区间0.9 - 4.7)。考虑到TAP2B与DR1之间已知的连锁不平衡后,TAP2B与EOPA-JCA的关联仍然存在(OR 3.5,95%可信区间1.3 - 9.7)。在对照组(δ0.018,p < 0.05)和JCA患者组(δ0.021,p < 0.05)中均发现HLA-DRB1*04与TAP2D处于连锁不平衡状态。TAP与DPB1等位基因之间未发现连锁不平衡。
TAP2B与EOPA-JCA之间的关联进一步表明了在这一临床定义的患者亚组中存在的异质性。