González-Escribano M F, Morales J, García-Lozano J R, Castillo M J, Sánchez-Román J, Núñez-Roldán A, Sánchez B
Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Ann Rheum Dis. 1995 May;54(5):386-8. doi: 10.1136/ard.54.5.386.
To determine if susceptibility to Behçet's disease (BD) is associated with polymorphism of HLA-DRB1, HLA-DQB1, DQB1, and TAP1 and TAP2 genes.
Fifty eight Spanish BD patients and 116 ethnically matched unrelated healthy subjects were typed at the HLA-DRB1 and HLA-DQB1 loci using polymerase chain reaction/sequence specific oligotyping (PCR/SSO). TAP1 and TAP2 alleles were assigned using amplification refractory mutation system-PCR.
TAP1C was absent in BD patients, but was found in 12.1% of control subjects (pcorr < 0.05; relative risk = 0.06). Additionally, a linkage disequilibrium between HLA-DQB1*0501 and TAP2B was observed in BD patients (delta = 0.095, pcorr < 0.02), but not in the control group (delta = -0.0031, p > 0.05).
The complete absence of TAP1C alleles in BD patients may indicate that TAP1 polymorphism is not without some significance in the development of BD. Furthermore, the existence of a linkage disequilibrium between HLA-DQB1*0501 and TAP2B in our patients suggests that the gene conferring susceptibility for BD is inherited as an extended haplotype in the population studied.
确定白塞病（BD）易感性是否与HLA - DRB1、HLA - DQB1、DQB1以及TAP1和TAP2基因的多态性相关。
采用聚合酶链反应/序列特异性寡核苷酸分型法（PCR/SSO）对58例西班牙BD患者和116例种族匹配的无关健康受试者进行HLA - DRB1和HLA - DQB1位点分型。使用扩增阻滞突变系统 - PCR确定TAP1和TAP2等位基因。
BD患者中不存在TAP1C，但在12.1%的对照受试者中发现（校正P值<0.05；相对风险 = 0.06）。此外，在BD患者中观察到HLA - DQB1*0501与TAP2B之间存在连锁不平衡（δ = 0.095，校正P值<0.02），但在对照组中未观察到（δ = -0.0031，P>0.05）。
BD患者中完全不存在TAP1C等位基因可能表明TAP1多态性在BD的发生发展中具有一定意义。此外，我们的患者中HLA - DQB1*0501与TAP2B之间存在连锁不平衡，这表明在所研究的人群中，赋予BD易感性的基因是以扩展单倍型的形式遗传的。
