title: Alpha-1-antitrypsin deficiency in Madeira (Portugal): the highest prevalence in the world.
abstract: Alpha-1-antitrypsin (AAT) deficiency is a common genetic disease which affects both lung and liver. Early diagnosis can help asymptomatic patients to adjust their lifestyle choices in order to reduce the risk of Chronic Obstructive Pulmonary Disease (COPD). The determination of this genetic deficiency prevalence in Madeira Island (Portugal) population is important to clarify susceptibility and define the relevance of performing genetic tests for AAT on individuals at risk for COPD. Two hundred samples of unrelated individuals from Madeira Island were genotyped for the two most common AAT deficiency alleles, PI*S and PI*Z, using Polymerase Chain Reaction-Mediated Site-Directed Mutagenesis. Our results show one of the highest frequencies for both mutations when compared to any already studied population in the world. In fact, PI*S mutation has the highest prevalence (18%), and PI*Z mutation (2.5%) was the third highest worldwide. The frequency of AAT deficiency genotypes in Madeira (PI*ZZ, PI*SS, and PI*SZ) is estimated to be the highest in the world: 41 per 1000. This high prevalence of AAT deficiency on Madeira Island reveals an increased genetic susceptibility to COPD and suggests a routine genetic testing for individuals at risk.
authors.affiliation: Human Genetics Laboratory, University of Madeira, Campus da Penteada, 9000-390 Funchal, Portugal.
authors.forename: Carla
authors.initials: C
authors.lastname: Spínola
authors.forename: Jácome
authors.initials: J
authors.lastname: Bruges-Armas
authors.forename: Conceição
authors.initials: C
authors.lastname: Pereira
authors.forename: António
authors.initials: A
authors.lastname: Brehm
authors.forename: Hélder
authors.initials: H
authors.lastname: Spínola
mesh_terms: D000293:Adolescent; D016001:Confidence Intervals; D042241:Early Diagnosis; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology / Q000235:genetics*