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Some future directions for genome-wide association studies of preserved ratio impaired spirometry
European Respiratory Journal ( IF 24.3 ) Pub Date : 2024-03-07 , DOI: 10.1183/13993003.00142-2024
Zhou Jin , Guangfa Wang

Extract

We read with interest the paper by Higbee et al. [1] that was recently published in the European Respiratory Journal. They discovered 22 single nucleotide polymorphisms (SNPs) associated with preserved ratio impaired spirometry (PRISm) through a two-stage sample population, four of which were associated with lung function, highlighting the usefulness of performing genome-wide association study (GWAS) of different lung function traits and phenotypes to maximise discovery of heritable genetic variants of lung function and disease, and that genetic risk factors for PRISm overlap with those for other lung diseases and extrapulmonary comorbidities. These findings have significant clinical implications. While this study's rigorous efforts and important contributions are greatly appreciated, some beneficial suggestions for future development are provided.



中文翻译:

保留比率受损肺量计的全基因组关联研究的一些未来方向

提炼

我们饶有兴趣地阅读了 H 的论文伊格比 等人。[1]最近发表在《欧洲呼吸杂志》上。他们通过两阶段样本群体发现了 22 个与保留比率受损肺量计 (PRISm) 相关的单核苷酸多态性 (SNP),其中 4 个与肺功能相关,突出了对不同样本进行全基因组关联研究 (GWAS) 的有用性。肺功能特征和表型,以最大限度地发现肺功能和疾病的可遗传遗传变异,以及 PRISm 的遗传风险因素与其他肺部疾病和肺外合并症的遗传风险因素重叠。这些发现具有重要的临床意义。尽管这项研究的严谨努力和重要贡献受到高度赞赏,但也为未来的发展提供了一些有益的建议。

更新日期:2024-03-07
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