Purpose: To determine the frequencies of the protease inhibitor (PI) deficiency alleles of alpha1-antitrypsin deficiency (AAT Deficiency) in indigenous populations in 12 countries in Sub-Sahara Africa because of their potential impact on the health in these populations with regard to the high risk for development of liver and lung disease. In addition, to discuss the unique susceptibility of these populations and emigrants to Europe and the New World to the adverse health effects associated with exposure to environmental microbes, chemicals, and particulates.
Methods: Detailed statistical analysis of the 24 control cohort databases from genetic epidemiological studies by others were used to estimate the allele frequencies and prevalence for the two most common deficiency alleles PIS and PIZ and to estimate the numbers at risk in each of the local Sub-Sahara populations as well as those who have emigrated from these countries to Europe and the New World.
Results: The present study has provided evidence for the presence of both PIS and PIZ in the general populations of Nigeria, Republic of South Africa, and Somalia, the PIS allele in Angola, Botswana, Cameroon, Mozambique, Namibia, and the Republic of Congo, and only the PIZ allele in Mali.
Conclusion: AAT Deficiency is found in both the Black and "Colored" populations in many of the Sub-Sahara countries in Africa, providing evidence for the presence of AAT Deficiency in such populations in Europe and in the New World. Such populations should be screened for AAT Deficiency and made aware of their unique susceptibility to exposure to chemical and particulate agents in the environment.