TAP1 ALLELES IN INSULIN-DEPENDENT DIABETES-MELLITUS - A NEWLY DEFINED CENTROMERIC BOUNDARY OF DISEASE SUSCEPTIBILITY
TAP1 ALLELES IN INSULIN-DEPENDENT DIABETES-MELLITUS - A NEWLY DEFINED CENTROMERIC BOUNDARY OF DISEASE SUSCEPTIBILITY
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DOI：
10.1073/pnas.90.23.11079
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发表时间：
1993-12-01
影响因子：
11.1
通讯作者：
CAPRA, JD
中科院分区：
文献类型：
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作者：
JACKSON, DG;CAPRA, JD
先前已经证明，具有某些DR等位基因的个体患胰岛素依赖型糖尿病(IDDM)的相对风险增加。某些DQ等位基因与疾病的关联性更强，但与DP的关联性很小，DQ和DP之间的430kb是疾病关联的界限。最近描述的TAP(与抗原处理相关的转运蛋白)基因已被定位在DP和DQ之间的大约中间。因此，确定是否有任何TAP等位基因与IDDM相关是很有意义的。除了已描述的TAP1等位基因外，在本研究中还鉴定了其他等位基因。采用单链构象多态技术对糖尿病患者和正常对照组进行TAP1基因筛查，并确定其相对危险度。在我们过去广泛研究的同一人群组中，我们发现TAP1等位基因与IDDM的关联性高于任何单一的HL A-DP等位基因，但风险低于HL A-DQB1*0302。这些数据为IDDM对TAP1和HLA-DQB1之间190kb区间的易感性提供了新的限制。
It has been previously demonstrated that individuals with certain DR alleles have an increased relative risk of developing insulin-dependent diabetes mellitus (IDDM). The disease association is even stronger with certain DQ alleles but there is little association with DP providing a boundary of disease association to the 430 kb between DQ and DP. The recently described TAP (transporter associated with antigen processing) genes have been mapped approximately midway between DP and DQ. Therefore, it was of interest to determine if any TAP alleles were associated with IDDM. In addition to the alleles of TAP1 that have been described, others were identified during this study. Diabetics and normal controls were screened for TAP1 using single-stranded conformational polymorphism and relative risk was determined. In the same population group we have studied extensively in the past, we found a higher association of a TAP1 allele with IDDM than with any single HLA-DP allele but the risk was lower than with HLA-DQB1*0302. These data provide new limits for IDDM susceptibility to the 190-kb interval between TAP1 and HLA-DQB1.