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Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches.

Auyon J GhoshBrian D Hobbs
Published in: Expert review of respiratory medicine (2022)
There remains ample opportunity to employ precision medicine in the diagnosis, prognosis, and therapy of alpha-1 antitrypsin deficiency-associated lung disease. In particular, a genome-wide association study and subsequent polygenic risk score is an important first step in identifying genome-wide genetic modifiers contributing to the variability of lung disease in severe alpha-1 antitrypsin deficiency.
Keyphrases
  • genome wide
  • genome wide association study
  • dna methylation
  • replacement therapy
  • copy number
  • early onset
  • current status
  • bone marrow
  • smoking cessation