2003
DOI: 10.1034/j.1399-0004.2003.00143.x
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Genetic epidemiology of alpha‐1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America

Abstract: Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world, as its affects all major racial subgroups worldwide, and there are an estimated 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to susceptibility for development of jaundice in infants, liver disease in children and adults and pulmonary emphysema in adults. Moreover, AAT deficiency carrier phenotypes (PiMS and PiMZ) and deficiency allele phenotypes (PiSS,… Show more

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Cited by 85 publications
(83 citation statements)
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“…The gene frequency for the Z protein is most prevalent in northern and western European countries with severe deficiency (PiZZ) affecting up to 1:1500 (2), though it is less common in countries of predominantly Western European descent such as regions of North America and the Antipodes (11,12). In Ireland 1:2104 individuals are PiZZ homozygotes, though in our targeted detection program 1:71 tested were PiZZ homozygotes highlighting the effectiveness of the targeted detection approach (5).…”
Section: Aatd Epidemiology In Irelandmentioning
confidence: 99%
“…The gene frequency for the Z protein is most prevalent in northern and western European countries with severe deficiency (PiZZ) affecting up to 1:1500 (2), though it is less common in countries of predominantly Western European descent such as regions of North America and the Antipodes (11,12). In Ireland 1:2104 individuals are PiZZ homozygotes, though in our targeted detection program 1:71 tested were PiZZ homozygotes highlighting the effectiveness of the targeted detection approach (5).…”
Section: Aatd Epidemiology In Irelandmentioning
confidence: 99%
“…Approximately one in every 2,000-2,500 people born in Europe and North America is affected by these diseases [1,2]. In patients with CF, the submucosal bronchial glands are hypertrophied, and primary viscid secretions are frequently infected.…”
mentioning
confidence: 99%
“…In the USA and Europe it is estimated that approximately 1 of 4700 individuals in the general population are homozygous for the Z mutation, the most common mutation associated with severe deficiency [De Serres et al 2003a, 2003bAmerican Thoracic Society/European Respiratory Society, 2003]. The prevalence increases as testing is targeted towards more specific high-risk groups.…”
Section: Introductionmentioning
confidence: 99%