Are Polymorphic Markers within the α-1-Antitrypsin Gene Associated with Risk of Human Immunodeficiency Virus Disease?

Hayes V.M.
Gardiner-Garden M.
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We sought to determine whether variants of the human α-1-antitrypsin (AAT) gene, also known as "PI," or "SERPINA1," are associated with human immunodeficiency virus (HIV) infection in 2 African-based populations from HIV-pandemic sub-Saharan Africa. Eleven commonly occurring African-associated polymorphic markers in the coding and intronic regions of the AAT gene were analyzed via denaturing gradient gel electrophoresis. A significant association between HIV-1 infection and the presence of an allelic variant was observed in the case of the M2 and A332A haplotypes, thus presenting AAT as a potentially novel HIV-1 susceptibility locus.
alpha 1 antitrypsin, gene product, protein pi, serpin a1, unclassified drug, aat gene, adult, Africa, allelism, article, coding, controlled study, denaturing gradient gel electrophoresis, disease marker, female, gene locus, genetic analysis, genetic association, genetic marker, genetic polymorphism, genetic susceptibility, genetic variability, haplotype, human, Human immunodeficiency virus, intron, major clinical study, male, nucleotide sequence, population distribution, population genetics, priority journal, Adolescent, Adult, Africa South of the Sahara, African Continental Ancestry Group, alpha 1-Antitrypsin, Asian Continental Ancestry Group, Electrophoresis, Polyacrylamide Gel, European Continental Ancestry Group, Female, Gene Frequency, Genetic Markers, Genetic Predisposition to Disease, Haplotypes, HIV Infections, HIV Seronegativity, HIV-1, Humans, Male, Middle Aged, Polymorphism, Genetic, Variation (Genetics)
Journal of Infectious Diseases