title: Variants of the human NRAMP1 gene and altered human immunodeficiency virus infection susceptibility.
abstract: In a population-based case-control study, 182 human immunodeficiency virus (HIV)-positive persons and 135 healthy control subjects were enrolled from the metropolitan area of Medellin, Colombia. Four genotypes of the natural resistance-associated macrophage protein l (NRAMP1) gene (5' GT repeat, 274C/T, 469+14G/T, and 823C/T) were associated with altered risk of HIV infection (P=.013,.015,.020, and. 035, respectively). Three of these markers (5' [GT]n, 274C/T, 469+14G/T) are in strong linkage disequilibrium, and genotypes of these markers are associated with reduced risk of HIV infection with relative risks (RRs) of 0.35 (95% confidence interval [CI], 0.14-0.91), 0.31 (CI, 0.10-0.93), and 0.24 (CI, 0.08-0.72), respectively. Conversely, heterozygosity at the fourth independent marker (823C/T) was associated with increased risk of HIV infection (RR, 2.29; CI, 1.06-4.92). These findings suggest that NRAMP1 modifies risk of HIV infection.
authors.affiliation: McGill Centre for the Study of Host Resistance, Montreal General Hospital Research Institute, Department of Medicine and Biochemistry, McGill University, Montreal, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Marquet
authors.forename: F O
authors.initials: FO
authors.lastname: Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Arias
authors.forename: J
authors.initials: J
authors.lastname: Rodríguez
authors.forename: S C
authors.initials: SC
authors.lastname: París
authors.forename: E
authors.initials: E
authors.lastname: Skamene
authors.forename: E
authors.initials: E
authors.lastname: Schurr
authors.forename: L F
authors.initials: LF
authors.lastname: García
mesh_terms: D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D027682:Cation Transport Proteins; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015658:HIV Infections / Q000235:genetics* / Q000276:immunology*; D018023:HIV Seronegativity / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D008565:Membrane Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1