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Article

Overlap between COPD genetic association results and transcriptional quantitative trait loci.

HGG advances - 15 Jan 2026

Saferali Aabida, Kim Wonji, Chase Robert P, Vollmers Christopher, Silverman Edwin K, Cho Michael H, Castaldi Peter J, Hersh Craig P

Abstract excerpt

Genome-wide association studies (GWASs) have identified multiple genetic loci associated with chronic obstructive pulmonary disease (COPD). Here, we identify SNPs that are associated with alternative splicing (splicing quantitative trait loci [sQTLs]) and gene expression (expression QTLs [eQTLs]) to identify functions for COPD-associated genetic variants. RNA sequencing on whole blood from 3,743 subjects in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40798880
DOI: 10.1016/j.xhgg.2025.100493
PMCID: PMC12481885

Genes

BTC
FBXO38
HHIP
NPNT
NTN4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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