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Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung

S Miller1, E Melén2,3, S K Merid2

  • 1Division of Respiratory Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK. suzanne.miller@nottingham.ac.uk.

Respiratory Research
|July 31, 2016
PubMed
Summary
This summary is machine-generated.

Over half of genes linked to lung function show varied expression during fetal lung development. TMEM163 and CDC123 exhibit significant mRNA and protein level changes, offering insights into lung development.

Keywords:
CDC123DevelopmentExpressionGeneticsLung functionTMEM163

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pulmonology

Background:

  • Genome-wide association studies identified single nucleotide polymorphisms (SNPs) in 54 genes associated with lung function.
  • Understanding the role of these genes in human lung development is limited.

Purpose of the Study:

  • To define the expression profile of lung function-associated genes during human lung development.
  • To investigate the link between key genetic polymorphisms and gene expression using expression quantitative trait loci (eQTL) approaches.

Main Methods:

  • Analyzed mRNA expression data from 38 human fetal lungs across developmental stages.
  • Investigated eQTLs for selected genes using blood and lung tissue data.
  • Performed immunohistochemistry for top candidate genes in 24 fetal lung samples.

Main Results:

  • Twenty-nine lung function-associated genes exhibited differential mRNA expression during development.
  • TMEM163, FAM13A, and HHIP showed increasing expression; CDC123 and PTCH1 showed decreasing expression.
  • TMEM163 protein increased and CDC123 protein decreased with fetal age, correlating with mRNA data.

Conclusions:

  • Over 50% of lung function-associated genes are differentially expressed during human lung development.
  • TMEM163 and CDC123 show differential expression at both mRNA and protein levels.
  • Provides insights into the potential roles of these genes in human lung development.