Chest
Special ReportsWorldwide Racial and Ethnic Distribution of α1-Antitrypsin Deficiency: Summary of an Analysis of Published Genetic Epidemiologic Surveys
Section snippets
Source of Data
The articles used in the present analysis were obtained through a variety of sources such as searches of the peer-reviewed literature on PubMed and the Web of Science in the Library of the National Institutes of Health. In addition, articles on genetic epidemiologic surveys for AAT deficiency in Europe9 and for the Middle East14 also were used.
Selection of Cohorts
Only the data on the phenotypes of the control group cohort in each article were used in the present study. These control cohorts (ie, blood donors,
Estimation of the Numbers of Carriers and Deficiency Allele Combinations for PiS and PiZ in Africa
The database for 11 countries in central and southern Africa is given in Table 1. There are a total of 23 cohorts with a total cohort sample size of 3,886. The sample size of the different cohorts varies from 88 in Botswana to 1,354 in the Republic of South Africa. This tabulation demonstrates striking differences between the prevalence of carriers and deficiency allele combinations for PiS and PiZ within this part of the African continent. In the final tabulation, with an estimated population
Are the Carriers and Deficiency Allele Combinations for the PiS and PiZ at Risk for Adverse Health Effects?
The fact that carriers for various metabolic diseases as well as for AAT deficiency are at risk for adverse health effects has been well-documented.11 There are numerous metabolic diseases in which the carriers are at risk. These include disorders the expression of which is influenced by dietary factors as well as those that are independent of food intake.11
The issue for AAT deficiency is whether carriers for the two major defective alleles (ie, PiS and PiZ) are at risk. In his 1989 review, Feld
Summary and Conclusions
The major finding in the present study is that AAT deficiency affects all major racial subgroups worldwide. The data presented in Table 12 indicate that there are at least 116 million carriers (PiMS and PiMZ) and 3.4 million deficiency allele combinations (PiSS, PiSZ, and PiZZ) worldwide. Furthermore, this database demonstrates that AAT deficiency is found in African blacks, Arabs and Jews in the Middle East, whites worldwide, central Asians, far east Asians, and southeast Asians. We conclude
ACKNOWLEDGMENT
The author is indebted to Mr. Eric Steele of National Institute of Environmental Health Sciences contractor OAO Corporation (Greenbelt, MD) for help in the original design of the spreadsheets used in data processing. The author also is indebted to Drs. Ignacio Blanco and Enrique Bustillo for their help in the preparation of new spreadsheet templates with embedded formulas for Hardy-Weinberg equilibrium statistics and 95% confidence limits. The author also is indebted to Drs. Jack Lieberman,
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This research was supported by a Bridge Grant from the Alpha-1 Foundation, Miami, FL.