Department of Life Science, Sogang University, Seoul, Republic of Korea.
J Hum Genet. 2011 Sep;56(9):652-9. doi: 10.1038/jhg.2011.75. Epub 2011 Jul 28.
Aspirin exacerbated respiratory disease (AERD) induces bronchoconstriction in asthmatic patients characterized with a clinical condition of severe decline in forced expiratory volume in one second (FEV1) after ingestion of aspirin. Two genes consisting a heterodimer, transporter 1 and 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1 and TAP2) within the major histocompatibility complex (MHC) region, have been implicated in immunodeficiency and bronchiectasis development. To investigate the associations of TAP1 and TAP2 genetic polymorphisms with AERD and phenotypic FEV1 decline, a total of 43 common single-nucleotide polymorphisms (SNPs) including 12 SNPs of TAP1 and 31 SNPs of TAP2 were genotyped in 93 AERD patients and 96 aspirin-tolerant asthma controls. Interestingly, regression analysis revealed that polymorphisms and haplotypes of TAP2 were associated with FEV1 decline by aspirin provocation (P=0.002-0.04), with about twofold decline rate of FEV1 in most of minor homozygotes compared with major homozygotes. In addition, nominal evidences of association between TAP2 and AERD development were observed (P=0.02-0.04). However, TAP1 polymorphisms showed no relations to both AERD and FEV1 decline after aspirin challenge (P>0.05). Although further functional evaluations and replications are required, our preliminary findings provide supporting information that variants of TAP2 might be predisposing factors for FEV1 decline-related symptoms.
阿司匹林加重的呼吸道疾病(AERD)在哮喘患者中诱导支气管收缩,其特征在于在摄入阿司匹林后用力呼气量(FEV1)的临床状况严重下降。位于主要组织相容性复合体(MHC)区域内的一个异二聚体、转运蛋白 1 和 2、ATP 结合盒亚家族 B(MDR/TAP)(TAP1 和 TAP2)的两个基因,已被牵连在免疫缺陷和支气管扩张症的发展中。为了研究 TAP1 和 TAP2 基因多态性与 AERD 和表型 FEV1 下降的关联,在 93 例 AERD 患者和 96 例阿司匹林耐受哮喘对照中,共对包括 12 个 TAP1 单核苷酸多态性(SNP)和 31 个 TAP2 SNP 在内的 43 个常见 SNP 进行了基因分型。有趣的是,回归分析显示 TAP2 的多态性和单体型与阿司匹林激发引起的 FEV1 下降相关(P=0.002-0.04),与大多数主要纯合子相比,大多数次要纯合子的 FEV1 下降率约为两倍。此外,还观察到 TAP2 与 AERD 发展之间存在关联的名义证据(P=0.02-0.04)。然而,TAP1 多态性与阿司匹林激发后 AERD 和 FEV1 下降均无关(P>0.05)。尽管需要进一步的功能评估和复制,但我们的初步研究结果提供了支持性信息,表明 TAP2 的变体可能是与 FEV1 下降相关症状的易感性因素。