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Susceptibility to chronic mucus hypersecretion, a genome wide association study
Akkelies E Dijkstra1, Joanna Smolonska2, Maarten van den Berge1
1University of Groningen, University Medical Center Groningen, Department of Pulmonology, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands.
Plos One
|April 10, 2014
Summary
Genetic factors may predispose smokers to chronic mucus hypersecretion (CMH). A genome-wide association study identified a specific gene variant linked to increased SATB1 expression and CMH risk.
Area of Science:
- Genetics
- Pulmonology
- Molecular Biology
Background:
- Chronic mucus hypersecretion (CMH) increases respiratory infection risk, lung function decline, hospitalization, and mortality.
- While linked to smoking, the genetic basis for why only some smokers develop CMH is unknown.
- Genetic predisposition is a plausible explanation for CMH development in smokers.
Purpose of the Study:
- To investigate the genetic underpinnings of chronic mucus hypersecretion (CMH) in Caucasian populations.
- To identify genetic variants associated with CMH through a genome-wide association study (GWA).
Main Methods:
- Genome-wide association (GWA) analysis was conducted in the NELSON study using the Illumina 610 array.
- Replication and meta-analysis involved 11 additional cohorts, totaling 2,704 CMH cases and 7,624 controls (heavy smokers).
- Functional studies assessed the relevance of the most significant single nucleotide polymorphism (SNP).
Main Results:
- A significant association was found with SNP rs6577641 (p=4.25×10⁻⁶, OR=1.17) in the SATB1 locus, consistently across cohorts.
- The risk allele (G) correlated with higher SATB1 mRNA expression in lung tissue (p=4.3×10⁻⁹).
- CMH presence was linked to increased SATB1 mRNA in COPD patient bronchial biopsies, and SATB1 expression rose during bronchial epithelial cell differentiation.
Conclusions:
- SNP rs6577641 is associated with CMH across multiple cohorts and acts as a cis-eQTL for SATB1.
- SATB1 expression increases during epithelial differentiation, suggesting a role in CMH.
- These findings provide evidence implicating SATB1 as a gene influencing chronic mucus hypersecretion.
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