The prevalence of alpha-1 antitrypsin deficiency in IrelandReport as inadecuate




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Respiratory Research

, 12:91

First Online: 01 December 2011Received: 25 January 2011Accepted: 13 July 2011

Abstract

BackgroundAlpha-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.

MethodsWe 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.

ResultsThe 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.

ConclusionOur 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.

List of abbreviationsAATalpha-1 antitrypsin

AATDalpha-1 antitrypsin deficiency

ATS-ERSAmerican Thoracic Society-European Respiratory Society

COPDchronic obstructive pulmonary disease

IEFisoelectric focusing

INTDPIrish National Targeted Detection Programme.

Electronic supplementary materialThe online version of this article doi:10.1186-1465-9921-12-91 contains supplementary material, which is available to authorized users.

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Author: Tomás P Carroll - Catherine A O-Connor - Olwen Floyd - Joseph McPartlin - Dermot P Kelleher - Geraldine O-Brien - Borisl

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