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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Related Experiment Video

Updated: Dec 23, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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A genome wide association study for lung function in the Korean population using an exome array.

Kyu-Sun Lee1, Kun Hee Kim2, Yeon-Mok Oh3

  • 1Department of Internal Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.

The Korean Journal of Internal Medicine
|April 28, 2020
PubMed
Summary

This study identified new genetic variants associated with lung function in the Korean population. These findings highlight potential genetic factors influencing forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC).

Keywords:
ExomeGenetic variationRespiratory function tests

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Area of Science:

  • Genetics and Respiratory Medicine
  • Human Population Genomics

Background:

  • Lung function is a critical indicator for diagnosing and predicting respiratory diseases.
  • Genetic variants are known to influence lung function across diverse ethnic groups.

Purpose of the Study:

  • To identify coding genetic variants associated with lung function parameters, specifically forced expiratory volume in 1 second (FEV1) and FEV1/forced vital capacity (FVC).
  • To investigate these associations within the general Korean population.

Main Methods:

  • Exome array analysis was performed on 7,524 individuals from the Korean population.
  • Lung function measurements (FEV1 and FEV1/FVC) were collected.
  • Analysis focused on single variants with a minor allele frequency greater than 0.5% and included validation in international consortia (UK Biobank, SpiroMeta, CHARGE).

Main Results:

  • Significant associations were found for coding variants in SMIM29, HMGA1, GIT2, and ARHGEF40 with FEV1.
  • Previously reported associations for FAM13A, TNXB, and AGER with lung function and chronic obstructive pulmonary disease were confirmed.

Conclusions:

  • Exome array analysis revealed several protein-coding variants associated with lung function in the Korean population.
  • Common variants in SMIM29, HMGA1, GIT2, FAM13A, TNXB, AGER, and a low-frequency variant in ARHGEF40 may influence lung function and require further investigation.