What is it about?
PI*ZZ genotype in the SERPINA1 gene, which is the major cause of alpha-1 antitrypsin deficiency, was associated with substantial morbidities and mortality, yet few of individuals were diagnosed with this disease in UK Biobank. PI*ZZ individuals are estimated to be more than 17,000 in the UK.
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Why is it important?
Alpha-1 antitrypsin deficiency, a respiratory condition that most often goes undiagnosed, can be predicted by the detection of a particular genetic mutation, which would allow patients to take preventive measures and avoid serious health consequences.
Perspectives
Not everyone with the genetic predisposition for AATD will go on to develop the disease. However, knowing whether one has the mutation offers the opportunity to intervene with preventive measures.
Tomoko Nakanishi
Read the Original
This page is a summary of: The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes, European Respiratory Journal, July 2020, European Respiratory Society (ERS),
DOI: 10.1183/13993003.01441-2020.
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