α1-antitrypsin phenotypes in coeliac patients and a control population in the West of Ireland

Bourke, M.; O’Donovan, M.; Stevens, Fiona; McCarthy, C. F.

doi:10.1007/bf02945176

Cited by 4 publications

(2 citation statements)

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“…A previous Irish study investigated the prevalence of AATD in 111 Irish coeliac patients compared to 250 blood donors and found gene frequencies of 0.008 for Z and 0.04 for S in the blood donor group [ 26 ]. However, the small sample size and the less accurate isoelectrofocusing method employed may account for the discrepancies with our findings.…”

Section: Discussionmentioning

confidence: 99%

The prevalence of alpha-1 antitrypsin deficiency in Ireland

et al. 2011

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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.

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Section: Discussionmentioning

confidence: 99%

The prevalence of alpha-1 antitrypsin deficiency in Ireland

et al. 2011

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“…To illustrate this point, a small study was performed in Ireland in 1992 to determine if an association existed between AATD and coeliac disease (Bourke et al 1993). AAT phenotypes in 111 coeliacs were compared to those in 250 blood donor controls including some hospital staff.…”

Section: Epidemiologymentioning

confidence: 99%