Prevalence of Alpha-1 Antitrypsin Deficiency in Ireland
Author Information
Author(s): Tomás P. Carroll, Catherine A. O'Connor, Olwen Floyd, Joseph McPartlin, Dermot P. Kelleher, Geraldine O'Brien, Borislav D. Dimitrov, Valerie B. Morris, Clifford C. Taggart, Noel G. McElvaney
Primary Institution: Royal College of Surgeons in Ireland
Hypothesis
What is the prevalence of alpha-1 antitrypsin deficiency (AATD) in the Irish population?
Conclusion
AATD is more prevalent in Ireland than previously estimated, with high frequencies of the Z and S alleles.
Supporting Evidence
- The study screened 3,000 individuals as part of a national program.
- It identified 42 ZZ homozygotes, indicating a significant prevalence of severe AATD.
- The Z allele frequency was found to be four-fold higher in the targeted population compared to the general population.
Takeaway
This study found that many people in Ireland have a genetic condition called AATD, which can cause serious health problems, but many don't know they have it.
Methodology
Data was collected from 3,000 individuals screened as part of the Irish National Targeted Detection Programme and 1,100 randomly sampled from the general population.
Potential Biases
Potential bias in the sample due to the targeted nature of the screening program.
Limitations
The study may not capture all cases of AATD due to under-diagnosis and reliance on targeted screening.
Participant Demographics
Participants included symptomatic individuals and a random sample from the general population.
Statistical Information
P-Value
p<0.001
Confidence Interval
95% CI 3.41 - 6.19
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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