2010
DOI: 10.1177/1753465810365158
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Ethnic differences in alpha-1 antitrypsin deficiency in the United States of America

Abstract: This analysis has demonstrated that the highest risk for AAT deficiency is found in Whites, followed by Hispanics and Blacks with the lowest prevalence among Mexican Americans and no risk among Asians. The numbers for those at risk for AAT deficiency in the United States are well documented and in the present analysis there are, for example, a total of 48,904 PI*ZZ homozygotes at risk. The critical question for our healthcare professionals is 'When will the medical community acknowledge that AAT deficiency is … Show more

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Cited by 43 publications
(27 citation statements)
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“…Most were White (97%), which reflects the biology of Alpha-1 (de Serres, Blanco, & Fernandez-Bustillo, 2010). The registry members were mostly female (81.2%).…”
Section: Methodsmentioning
confidence: 99%
“…Most were White (97%), which reflects the biology of Alpha-1 (de Serres, Blanco, & Fernandez-Bustillo, 2010). The registry members were mostly female (81.2%).…”
Section: Methodsmentioning
confidence: 99%
“…While the ZZ genotype is relatively well-studied, there is little information regarding MZ, SZ, and other less common genotypes and to date there have been no investigations into the functional consequences of AATD heterozygosity. This is a vital clinical and public health question, as there are predicted to be over 6.6 million MZ and 230,000 SZ individuals in the US alone (de Serres, Blanco, and Fernandez-Bustillo 2010) and the total economic costs of COPD in the US were estimated to be almost $50 billion in 2010 (National Heart 2009). From a basic research perspective, a careful examination of AATD heterozygosity may lead to a new appreciation of this understudied area and the development of new therapies.…”
Section: Resultsmentioning
confidence: 99%
“…While we hypothesized that the biological factors that increase black smokers' vulnerability to COPD would also elevate risks in never-smokers (e.g., shorter sitting height [18] and/or poorer metabolism of cigarette smoke [19]), it is likely that different factors are in play. An example may be alpha-1 antitrypsin deficiency, a genetic mutation linked to higher risk of COPD, which is more prevalent among white Americans than blacks [28]. However, if alpha-1 antitrypsin deficiency plays a role, it is unclear why the influence would not be comparable for black-white differences in women as well.…”
Section: Discussionmentioning
confidence: 99%