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韩国哮喘患者中 FILIP1 多态性与阿司匹林过敏的关联分析。

Association Analysis Between FILIP1 Polymorphisms and Aspirin Hypersensitivity in Korean Asthmatics.

机构信息

Department of Life Science, College of Natural Sciences, Sogang University, Seoul, Korea.

出版信息

Allergy Asthma Immunol Res. 2013 Jan;5(1):34-41. doi: 10.4168/aair.2013.5.1.34. Epub 2012 Oct 25.

Abstract

PURPOSE

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).

METHODS

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.

RESULTS

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).

CONCLUSIONS

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.

摘要

目的

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。

方法

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。

结果

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)。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11aa/3529227/13c186589491/aair-5-34-g001.jpg

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