Integrating GWAS with quantitative trait loci prioritized PSMA4 as a risk gene for pneumonia

<title>Extract</title> Pneumonia ranks as the eighth leading cause of death worldwide and leads to significant healthcare costs [1]. A deeper understanding of pneumonia susceptibility and pathogenesis is essential for developing effective preventive and therapeutic strategies. Previous genome-wide association studies (GWAS) from large biobanks have identified genetic loci to be related to pneumonia susceptibility, including loci on chromosome 15 (near genes CHRNA3/5), major histocompatibility complex (MHC) region on chromosome 6, and those near genes IL127, PBX3, APOBR [2], and MUC5AC, TNFRSF1A and CYP1A1 [3]. However, most of the GWAS associations are confined to non-coding regions, suggesting gene regulatory effects rather than direct protein sequence alteration.