title: Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia.
abstract: The current study focuses on updating estimates of the numbers of individuals carrying the two most common deficiency alleles, protease inhibitor (PI)*S and PI*Z, for alpha1-antitrypsin deficiency (AT-D) in 20 Asian countries. A total of 170 cohorts with 31,177 individuals were selected from 20 Asian countries. The total AT-D populations in the countries selected were: 7,264 ZZ; 36,754 SZ; 6,672,479 MZ; 46,492 SS; and 16,881,108 MS. Marked differences among the Asian countries and regions were also found for the prevalence of the deficiency alleles PI*S and PI*Z. These numbers demonstrate that AT-D is not just a genetic disease that affects smaller numbers than various countries, for example, in Europe. There were marked differences between the prevalence of the PI*S and PI*Z deficiency alleles among these 20 Asian countries as well as among the countries within a given geographic region in Asia. The largest numbers of ZZ phenotypes (3,000-14,000) were in Afghanistan, Pakistan, Saudi Arabia and Thailand; with <1,700 in each of the remaining countries.
authors.affiliation: National Institute of Environmental Health Sciences, PO Box 12233, Center for the Evaluation of Risks to Human Reproduction National Toxicology Program Research Triangle Park NC 27709-2233 USA. deserres@bellsouth.net
authors.forename: F J
authors.initials: FJ
authors.lastname: de Serres
authors.forename: I
authors.initials: I
authors.lastname: Blanco
authors.forename: E
authors.initials: E
authors.lastname: Fernández-Bustillo
mesh_terms: D000483:Alleles; D001208:Asia / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D015995:Prevalence; D011480:Protease Inhibitors / Q000378:metabolism*; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011480:Protease Inhibitors; C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin