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Alpha-1 antitrypsin PiSZ genotype: estimated prevalence and number of SZ subjects worldwide
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Alpha-1 antitrypsin PiSZ genotype: estimated prevalence and number of SZ subjects worldwide
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Journal Article
Alpha-1 antitrypsin PiSZ genotype: estimated prevalence and number of SZ subjects worldwide
2017
Overview
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop tables and maps with an inverse distance-weighted (IDW) interpolation method, to provide numerical and geographical information of the Pi*SZ distribution worldwide. A total of 262 cohorts from 71 countries were included in the analysis. With the data provided by these cohorts, a total of 1,490,816 Pi*SZ were estimated: 708,792 in Europe; 582,984 in America and Caribbean; 85,925 in Africa; 77,940 in Asia; and 35,176 in Australia and New Zealand. Remarkably, the IDW interpolation maps predicted the Pi*SZ prevalence throughout the entire world even in areas lacking real data. These results may be useful to plan strategies for future research, diagnosis, and management of affected individuals.
Publisher
Dove Medical Press Ltd,Dove Medical Press
Subject
alpha 1-Antitrypsin - genetics
/ alpha 1-Antitrypsin Deficiency - diagnosis
/ alpha 1-Antitrypsin Deficiency - enzymology
/ alpha 1-Antitrypsin Deficiency - genetics
/ alpha-1 antitrypsin deficiency
/ Chronic obstructive pulmonary disease
/ Genes
/ Genetic Predisposition to Disease
/ geographic information system
/ Humans
/ inverse distance weighted interpolation
/ Lungs
/ Pulmonary Emphysema - enzymology
/ Pulmonary Emphysema - genetics
/ SERPINA1
/ Systemic Vasculitis - enzymology
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