Department of Life Science, College of Natural Sciences, Sogang University, Seoul, Korea.
Allergy Asthma Immunol Res. 2013 Jan;5(1):34-41. doi: 10.4168/aair.2013.5.1.34. Epub 2012 Oct 25.
Aspirin exacerbated respiratory disease (AERD) results in a severe asthma attack after aspirin ingestion in asthmatics. The filamin A interacting protein 1 (FILIP1) may play a crucial role in AERD pathogenesis by mediating T cell activation and membrane rearrangement. We investigated the association of FILIP1 variations with AERD and the fall rate of forced expiratory volume in one second (FEV1).
A total of 34 common FILIP1 single nucleotide polymorphisms (SNPs) were genotyped in 592 Korean asthmatic subjects that included 163 AERD patients and 429 aspirin-tolerant asthma (ATA) controls.
This study found that 5 SNPs (P=0.006-0.01) and 2 haplotypes (P=0.01-0.03) of FILIP1 showed nominal signals; however, corrections for the multiple testing revealed no significant associations with the development of AERD (P(corr)>0.05). In addition, association analysis of the genetic variants with the fall rate of FEV1, an important diagnostic marker of AERD, revealed no significant evidence (P(corr)>0.05).
Although further replications and functional evaluations are needed, our preliminary findings suggest that genetic variants of FILIP1 might be not associated with the onset of AERD.
阿司匹林加重的呼吸道疾病(AERD)在哮喘患者服用阿司匹林后会导致严重的哮喘发作。黏着斑蛋白相互作用蛋白 1(FILIP1)可能通过介导 T 细胞激活和膜重排在 AERD 发病机制中发挥关键作用。我们研究了 FILIP1 变异与 AERD 和用力呼气量(FEV1)一秒率下降率之间的关联。
在包括 163 名 AERD 患者和 429 名阿司匹林耐受哮喘(ATA)对照的 592 名韩国哮喘患者中,共对 34 个常见的 FILIP1 单核苷酸多态性(SNP)进行了基因分型。
本研究发现,5 个 SNP(P=0.006-0.01)和 2 个单倍型(P=0.01-0.03)的 FILIP1 表现出名义信号;然而,对多重检验的校正显示,与 AERD 的发展没有显著关联(P(corr)>0.05)。此外,对与 AERD 的重要诊断标志物 FEV1 下降率相关的遗传变异的关联分析也没有发现显著证据(P(corr)>0.05)。
尽管需要进一步的复制和功能评估,但我们的初步发现表明,FILIP1 的遗传变异可能与 AERD 的发病无关。