Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function.

doi:10.1038/s41598-021-98120-7

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Article

Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function.

Scientific reports - 29 Sept 2021

Yang Tianzhong, Jackson Victoria E, Smith Albert V, Chen Han, Bartz Traci M, Sitlani Colleen M, Psaty Bruce M, Gharib Sina A, O'Connor George T, Dupuis Josée, Xu Jiayi, Lohman Kurt, Liu Yongmei, Kritchevsky Stephen B, Cassano Patricia A, Flexeder Claudia, Gieger Christian, Karrasch Stefan, Peters Annette, Schulz Holger, Harris Sarah E, Starr John M, Deary Ian J, Manichaikul Ani, Oelsner Elizabeth C, Barr R G, Taylor Kent D, Rich Stephen S, Bonten Tobias N, Mook-Kanamori Dennis O, Noordam Raymond, Li-Gao Ruifang, Jarvelin Marjo-Riitta, Wielscher Matthias, Terzikhan Natalie, Lahousse Lies, Brusselle Guy, Weiss Stefan, Ewert Ralf, Gläser Sven, Homuth Georg, Shrine Nick, Hall Ian P, Tobin Martin, London Stephanie J, Wei Peng, Morrison Alanna C

Abstract excerpt

Genome-wide association studies have identified numerous common genetic variants associated with spirometric measures of pulmonary function, including forced expiratory volume in one second (FEV1), forced vital capacity, and their ratio. However, variants with lower minor allele frequencies are less explored. We conducted a large-scale gene-smoking interaction meta-analysis on exonic rare and low-frequency...

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Identifiers

PMID: 34588469
DOI: 10.1038/s41598-021-98120-7
PMCID: PMC8481467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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