Genome-Wide Association Analysis of Rapid Decline in Lung Function: Analysis From the Korean Genome and Epidemiology Study.

J Korean Med Sci

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Published: November 2024

AI Article Synopsis

  • A study investigated the genetic factors linked to a rapid decline in forced expiratory volume in 1 second (FEV1), which is a key indicator of chronic obstructive pulmonary disease (COPD), using data from 6,516 participants in the Korean Genome and Epidemiology Study.
  • Researchers defined a rapid decline in FEV1 as a decrease of 60 mL or more per year and examined the associations between specific genetic variants (SNPs) and this decline, taking into account participants' smoking histories.
  • The analysis identified 15 significant genetic variants associated with rapid FEV1 decline, including notable SNPs rs16951883 for never smokers and rs10959478 for ever smokers, highlighting the influence of genetics

Article Abstract

Background: A rapid decline in forced expiratory volume in 1 second (FEV1) is considered an important phenotype of the development of chronic obstructive pulmonary disease (COPD). However, the associations between specific genetic variants (single-nucleotide polymorphisms; SNPs) and this phenotype remain uncertain.

Methods: We enrolled 6,516 individuals from the Korean Genome and Epidemiology Study (KoGES). A rapid decline in FEV1 was defined as an annual decrease of FEV1 ≥ 60 mL/year. A multivariable logistic regression model was used to assess the associations between SNP variants and the rapid decline in FEV1. Considering the significant impact of smoking on lung function, a subgroup analysis based on smoking history was also conducted.

Results: A genome-wide association analysis of the rapid decline in FEV1 identified 15 association signals ( < 5.0 × 10). Among the 15 nucleotide variants, rs9833533 and rs1496255 have been previously reported to be associated with lung function development. In the subgroup analysis, rs16951883 (adjusted odds ratio [aOR], 3.24; = 5.87 × 10) was the most significant SNP associated with rapid decline in FEV1 among never smokers, followed by rs41476549, rs16840064, and rs1350110. Conversely, among ever smokers, rs10959478 (aOR, 4.74; = 8.27 × 10) showed the highest significance, followed by rs6805861, rs9833533, and rs16906215.

Conclusion: We identified 15 nucleotide variants linked to a rapid decline in FEV1, including two SNPs previously reported to be associated with lung function development. Additional SNPs, which were associated with COPD, may be found using novel phenotypes.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538576PMC
http://dx.doi.org/10.3346/jkms.2024.39.e275DOI Listing

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