Effect of Diffuse Panbronchiolitis Critical Region 1 Polymorphisms on the Risk of Aspirin-Exacerbated Respiratory Disease in Korean Asthmatics
Effect of Diffuse Panbronchiolitis Critical Region 1 Polymorphisms on the Risk of Aspirin-Exacerbated Respiratory Disease in Korean Asthmatics
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DOI：
10.4187/respcare.01480
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发表时间：
2012-05-01
期刊：
影响因子：
2.5
通讯作者：
Shin, Hyoung Doo
中科院分区：
文献类型：
--
作者：
Lee, Jin Sol;Bae, Joon Seol;Shin, Hyoung Doo
背景技术背景：位于主要组织相容性复合体I类的人弥漫性泛细支气管炎关键区1（DPCR 1）基因的功能作用尚未得到广泛研究。然而，该基因是弥漫性泛细支气管炎（一种影响人类呼吸性细支气管的疾病）的众所周知的遗传标记。在这项研究中，我们探讨了DPCR 1多态性与阿司匹林加重呼吸道疾病（AERD）（一种哮喘表型）之间的关系。方法：对总共189名韩国哮喘患者进行了6种多态性的基因分型，分为93例AERD病例和96例阿司匹林耐受哮喘对照。阿司匹林激发后FEV 1显著降低的受试者被确定为AERD受试者。采用Logistic回归分析探讨DPCR 1基因多态性与AERD及FEV 1下降的关系。研究结果：初步分析显示rs 2517449与AERD显著相关，通过隐性模型P值为0.03;然而，在多次测试校正后，相关信号消失。此外，rs 2517449和rs 2240804也显示出与阿司匹林激发后FEV 1下降相关的信号（在隐性模型中，分别为P = 0.007和0.03）。多重比较后，只有rs 2517449的关联信号被保留（P-corr = 0.04），而其他多态性与AERD和FEV 1下降的风险无关。结论：我们的研究结果表明，DPCR 1的多态性与AERD的风险无关。
BACKGROUND: The functional role of the human diffuse panbronchiolitis critical region 1 (DPCR1) gene, located in the major histocompatibility complex class I, has not been widely investigated. However, this gene is a well known genetic marker for diffuse panbronchiolitis, a disease affecting human respiratory bronchioles. In this study we explored the association between polymorphisms in DPCR1 and aspirin-exacerbated respiratory disease (AERD), an asthma phenotype. METHODS: Genotyping of 6 polymorphisms was carried out in a total of 189 Korean asthmatic patients stratified into 93 AERD cases and 96 aspirin tolerant asthma controls. Subjects who exhibited significant decrease of FEV1 by aspirin provocation were identified as AERD subjects. Logistic and regression analyses were performed to investigate the association between DPCR1 polymorphisms and the risk of AERD as well as FEV1 decline. RESULTS: Initial analysis revealed significant association of rs2517449 with AERD, with a P value of .03 via a recessive model; however, the association signal disappeared after multiple testing corrections. In addition, rs2517449 and rs2240804 also showed association signals with decline of FEV1 after aspirin provocation (P = .007 and .03, respectively, in a recessive model). After testing for multiple comparisons, only the association signal from rs2517449 was retained (P-corr = .04), while other polymorphisms showed no associations with the risk of AERD and FEV1 decline. CONCLUSIONS: Our results show that polymorphisms in DPCR1 are not associated with the risk of AERD.