Rare-variant collapsing analyses of asthma in the UK biobank

IF 2.4 Q2 RESPIRATORY SYSTEM

Respiratory investigation Pub Date : 2025-06-10 DOI:10.1016/j.resinv.2025.05.016

Bengt Zöller , Eric Manderstedt , Christina Lind-Halldén , Christer Halldén

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Abstract

Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.com/and https://app.genebass.org/) were used to access gene collapsing analysis of rare variations for asthma. A conservative threshold (p ≤ 2 × 10−9) was used to decrease the risk of spurious associations. Rare variations in two genes were significantly linked to asthma (Il33, FLG). Both genes have previously been linked to asthma in genome-wide association studies. The strongest non-significant gene was CSF2RA with a p-value of 6.09e-8. In conclusion, no novel significant asthma loci were identified using gene collapsing analyses. Future rare variant analysis studies of asthma need to refine phenotypic classification and incorporating diverse populations.

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英国生物库中哮喘的罕见变异塌陷分析

哮喘是一种常见的健康问题。常见和罕见的遗传风险因素都可能导致哮喘，但很少有大规模的全外显子组测序研究阐明罕见变异对哮喘的影响。两个已发表的UK Biobank门户网站：Genebass门户网站（N = 269,171）和Astra Zeneca门户网站（N = 484,111）（https://azphewas.com/and https://app.genebass.org/）用于访问哮喘罕见变异的基因崩溃分析。使用保守阈值（p≤2 × 10−9）来降低虚假关联的风险。两个基因的罕见变异与哮喘（Il33， FLG）显著相关。在之前的全基因组关联研究中，这两个基因都与哮喘有关。非显著性最强的基因为CSF2RA， p值为6.09e-8。总之，通过基因崩溃分析没有发现新的显著哮喘位点。未来哮喘罕见变异分析研究需要完善表型分类并纳入不同人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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