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Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of ₁-antitrypsin deficiency in Asia

¹ Center for the Evaluation of Risks to Human Reproduction National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA. ² Internal Medicine Division, Respiratory Diseases Branch, Hospital Valle del Nalon, Langreo, and ³ Bio-statistics Unit, Hospital Universitario Central de Asturias, Oviedo, Principado de Asturias, Spain.

CORRESPONDENCE: F. J. de Serres, 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. Fax: 1 9199678681. E-mail: deserres{at}bellsouth.net

Keywords: ₁-Antitrypsin deficiency, ₁-protease, ₁-protease inhibitor, genetic epidemiology, protease inhibitor phenotypes

Received: February 27, 2006
Accepted September 11, 2006

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 ₁-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.