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- Title
The prevalence of alpha-1 antitrypsin deficiency in Ireland.
- Authors
Carroll, Tomás P.; O'Connor, Catherine A.; Floyd, Olwen; McPartlin, Joseph; Kelleher, Dermot P.; O'Brien, Geraldine; Dimitrov, Borislav D.; Morris, Valerie B.; Taggart, Clifford C.; McElvaney, Noel G.
- Abstract
<bold>Background: </bold>Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.<bold>Methods: </bold>We present data from the first 3,000 individuals screened following ATS/ERS guidelines as part of the Irish National Targeted Detection Programme (INTDP). We also investigated a DNA collection of 1,100 individuals randomly sampled from the general population. Serum and DNA was collected from both groups and mutations in the SERPINA1 gene detected by phenotyping or genotyping.<bold>Results: </bold>The Irish National Targeted Detection Programme identified 42 ZZ, 44 SZ, 14 SS, 430 MZ, 263 MS, 20 IX and 2 rare mutations. Analysis of 1,100 randomly selected individuals identified 113 MS, 46 MZ, 2 SS and 2 SZ genotypes.<bold>Conclusion: </bold>Our findings demonstrate that AATD in Ireland is more prevalent than previously estimated with Z and S allele frequencies among the highest in the world. Furthermore, our targeted detection programme enriched the population of those carrying the Z but not the S allele, suggesting the Z allele is more important in the pathogenesis of those conditions targeted by the detection programme.
- Subjects
IRELAND; ALPHA 1-antitrypsin deficiency; PULMONARY emphysema; LIVER diseases; OBSTRUCTIVE lung diseases; WORLD Health Organization; STATISTICAL sampling
- Publication
Respiratory Research, 2011, Vol 12, Issue 7, p1
- ISSN
1465-9921
- Publication type
journal article
- DOI
10.1186/1465-9921-12-91