Downloads provided by UsageCountsAlpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
Copyright policy ) Ignacio Blanco; Patricia Bueno; Isidro Diego; Sergio Pérez-Holanda; Francisco Casas-Maldonado; Cristina Esquinas; Marc Miravitlles;
Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
In alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe disease, and knowledge of the frequency of this allele is essential from a public health perspective. However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data currently used are outdated. Therefore, the objective of this study was to update the knowledge of the frequency of the Z allele to achieve accurate estimates of the prevalence and number of Pi*ZZ genotypes 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) measurements performed using a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop maps with an inverse distance weighted (IDW)-interpolation method, providing numerical and graphical information of Pi*Z distribution worldwide. A total of 224 cohorts from 65 countries were included in the study. With the data provided by these cohorts, a total of 253,404 Pi*ZZ were estimated worldwide: 119,594 in Europe, 91,490 in America and Caribbean, 3,824 in Africa, 32,154 in Asia, 4,126 in Australia, and 2,216 in New Zealand. In addition, the IDW-interpolation maps predicted Pi*Z frequencies throughout the world even in some areas that lack real data. In conclusion, the inclusion of new well-designed studies and the exclusion of the low-quality ones have significantly improved the reliability of results, which may be useful to plan strategies for future research and diagnosis and to rationalize the therapeutic resources available.
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Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Confidence Intervals, Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::alpha 1-Antitrypsin Deficiency, Global Health, Alfa 1-antitripsina, Epidemiologia genètica, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Gene Frequency, Malalties hereditàries, Prevalence, Genetic epidemiology, Original Research, Molecular Epidemiology, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence, Medical Subject Headings::Geographical Locations::Geographic Locations::Europe, Enzyme inhibitors, Geographic information systems, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Sample Size, Phenotype, Alpha-1 antitrypsin deficiency, Medical Subject Headings::Health Care::Environment and Public Health::Public Health, SERPINA1, DISEASES::Respiratory Tract Diseases::Lung Diseases::alpha 1-Antitrypsin Deficiency, Genetic diseases, PUBLIC HEALTH::Epidemiology and Biostatistics::Epidemiology::Epidemiologic Studies::Molecular Epidemiology, Medical Subject Headings::Geographical Locations::Geographic Locations::Australia, Epidemiologia molecular, Protease inhibitor (Pi), International Journal of Chronic Obstructive Pulmonary Disease, Diseases of the respiratory system, Medical Subject Headings::Geographical Locations::Geographic Locations::Americas::Caribbean Region, alpha 1-Antitrypsin Deficiency, ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::deficiencia de alfa 1-antitripsina, Humans, Genetic Predisposition to Disease, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Reproducibility of Results, Sistemes d'informació geogràfica, RC705-779, Models, Genetic, SALUD PÚBLICA::epidemiología y bioestadística::epidemiología::estudios epidemiológicos::epidemiología molecular, Inverse distance weighted (IDW) interpolation, Geographic information system (GIS)., Genetics, Population, Medical Subject Headings::Geographical Locations::Geographic Locations::Islands::Pacific Islands::New Zealand, Inhibidors enzimàtics, alpha 1-Antitrypsin, Mutation, Medical Subject Headings::Geographical Locations::Geographic Locations::Africa, Medical Subject Headings::Geographical Locations::Geographic Locations::Asia
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Confidence Intervals, Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::alpha 1-Antitrypsin Deficiency, Global Health, Alfa 1-antitripsina, Epidemiologia genètica, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Gene Frequency, Malalties hereditàries, Prevalence, Genetic epidemiology, Original Research, Molecular Epidemiology, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence, Medical Subject Headings::Geographical Locations::Geographic Locations::Europe, Enzyme inhibitors, Geographic information systems, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Sample Size, Phenotype, Alpha-1 antitrypsin deficiency, Medical Subject Headings::Health Care::Environment and Public Health::Public Health, SERPINA1, DISEASES::Respiratory Tract Diseases::Lung Diseases::alpha 1-Antitrypsin Deficiency, Genetic diseases, PUBLIC HEALTH::Epidemiology and Biostatistics::Epidemiology::Epidemiologic Studies::Molecular Epidemiology, Medical Subject Headings::Geographical Locations::Geographic Locations::Australia, Epidemiologia molecular, Protease inhibitor (Pi), International Journal of Chronic Obstructive Pulmonary Disease, Diseases of the respiratory system, Medical Subject Headings::Geographical Locations::Geographic Locations::Americas::Caribbean Region, alpha 1-Antitrypsin Deficiency, ENFERMEDADES::enfermedades respiratorias::enfermedades pulmonares::deficiencia de alfa 1-antitripsina, Humans, Genetic Predisposition to Disease, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Reproducibility of Results, Sistemes d'informació geogràfica, RC705-779, Models, Genetic, SALUD PÚBLICA::epidemiología y bioestadística::epidemiología::estudios epidemiológicos::epidemiología molecular, Inverse distance weighted (IDW) interpolation, Geographic information system (GIS)., Genetics, Population, Medical Subject Headings::Geographical Locations::Geographic Locations::Islands::Pacific Islands::New Zealand, Inhibidors enzimàtics, alpha 1-Antitrypsin, Mutation, Medical Subject Headings::Geographical Locations::Geographic Locations::Africa, Medical Subject Headings::Geographical Locations::Geographic Locations::Asia
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