title: Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?
abstract: We sought to determine whether variants of the human alpha-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.
authors.affiliation: Department of Urology, University of Stellenbosch, Faculty of Health Sciences, Tygerberg, South Africa. v.hayes@garvan.org.au.
authors.forename: Vanessa M
authors.initials: VM
authors.lastname: Hayes
authors.forename: Margaret
authors.initials: M
authors.lastname: Gardiner-Garden
mesh_terms: D000293:Adolescent; D000328:Adult; D017954:Africa South of the Sahara; D044466:Asian People; D044383:Black People; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015658:HIV Infections / Q000235:genetics*; D018023:HIV Seronegativity / Q000235:genetics; D015497:HIV-1; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D044465:White People; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D000515:alpha 1-Antitrypsin