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Related Concept Videos

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Related Experiment Video

Updated: Sep 24, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
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Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis.

Mikyeong Lee1, Tianxiao Huan2,3, Daniel L McCartney4

  • 1Epidemiology Branch.

American Journal of Respiratory and Critical Care Medicine
|May 10, 2022
PubMed
Summary

This study identified over 1,200 DNA methylation sites linked to lung function, revealing novel genetic targets. These findings offer insights into lung disease and potential therapeutic strategies.

Keywords:
chronic obstructive pulmonary diseaseepigeneticsrespiratory function testsspirometry

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Area of Science:

  • Epigenetics
  • Pulmonary Medicine
  • Genomics

Background:

  • DNA methylation patterns are influenced by both genetic and environmental factors throughout life, impacting pulmonary function.
  • Previous studies on DNA methylation and lung function have been limited in scope and replication.
  • Understanding these epigenetic modifications is crucial for comprehending lung health and disease.

Purpose of the Study:

  • To perform large-scale epigenome-wide meta-analyses investigating the association between blood DNA methylation and pulmonary function.
  • To identify novel differentially methylated positions (CpGs) related to lung function metrics like FEV1, FVC, and FEV1/FVC.
  • To explore the functional relevance and potential therapeutic implications of identified epigenetic markers.

Main Methods:

  • Conducted multiancestry epigenome-wide meta-analyses across twelve cohorts, including European, African, and Hispanic/Latino ancestries (N=17,503).
  • Analyzed DNA methylation using Illumina 450K or EPIC/850K arrays, assessing associations with FEV1, FVC, and FEV1/FVC.
  • Employed integrative epigenomics, Mendelian randomization, and colocalization analyses for result interpretation.

Main Results:

  • Identified 1,267 differentially methylated CpGs (1,042 genes) associated with pulmonary function (FDR <0.025), including 1,240 novel findings.
  • Discovered ancestry-specific (294 CpGs) and smoking-status-specific (395 CpGs) methylation patterns.
  • Found that most significant CpGs correlated with nearby gene expression and were enriched in regulatory elements in blood and lung tissues.
  • Highlighted 69 genes as targets for existing or investigational drugs, with *TNFRSF4* noted as a novel example.

Conclusions:

  • Identified numerous novel loci with differential methylation related to pulmonary function, expanding beyond findings from genome-wide association studies.
  • Demonstrated the functional relevance of these epigenetic modifications through integrative analyses, suggesting potential therapeutic targets.
  • Provided comprehensive insights into lung pathogenesis by discovering potentially modifiable loci, complementing genetic studies.