Genes that contribute to lung function decline in asthma: ADAM33, ESR1, PLAUR, and VEGF

Airway remodeling in asthma includes:

- smooth muscle hypertrophy/hyperplasia
- basement membrane thickening
- increased extracellular matrix deposition

Does airway remodeling have a genetic contribution in asthma?

Single nucleotide polymorphisms (SNPs) spanning ADAM33, ESR1, PLAUR, and VEGF have been associated with an excess decline in lung function in asthmatic subjects carrying these rare alleles (FEV1, −13.0 to 55.2 mL/year excess).

These genes have overlapping functions in proteolytic pathways in the airways.


Human chromosomes (grey) capped by telomeres (white). Image source: Wikipedia, public domain.

References

Evidence of a genetic contribution to lung function decline in asthma. Gerard H. Koppelman, MD, PhD, Ian Sayers, PhD. JACI, 2011.

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