Type

Journal Article

Authors

Noel G McElvaney
Clifford C Taggart
Valerie B Morris
Borislav D Dimitrov
Geraldine O'Brien
Olwen Floyd
Joseph Mcpartlin
Catherine A O'Connor
Dermot Kelleher
Tomás P Carroll

Subjects

Medicine & Nursing

Topics
chronic obstructive pulmonary disease copd health surveys alpha 1 antitrypsin gene frequency dna mutational analysis epidemiology cancer medicine and health sciences genetic predisposition to disease phenotype ireland risk factors emphysema alpha 1 antitrypsin deficiency prevalence liver disease genetic testing odds ratio world health organisation genes society chi square distribution serpina1 protein human humans endocrinology and metabolism dna mutation risk assessment genetics mass screening diagnosis

The prevalence of alpha-1 antitrypsin deficiency in Ireland (2011)

Abstract Background: 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. Methods: 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. Results: 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. Conclusion: 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.
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Full list of authors on original publication

Noel G McElvaney, Clifford C Taggart, Valerie B Morris, Borislav D Dimitrov, Geraldine O'Brien, Olwen Floyd, Joseph Mcpartlin, Catherine A O'Connor, Dermot Kelleher, Tomás P Carroll

Experts in our system

1
Noel G McElvaney
Royal College of Surgeons in Ireland
Total Publications: 194
 
2
Clifford C Taggart
Royal College of Surgeons in Ireland
Total Publications: 54
 
3
Joseph Mcpartlin
Trinity College Dublin
Total Publications: 15
 
4
Dermot Kelleher
Trinity College Dublin
Total Publications: 149
 
5
Tomás P Carroll
Royal College of Surgeons in Ireland
Total Publications: 26