title: Genomic analysis of Fas and FasL genes and absence of correlation with disease progression in AIDS.
abstract: Apoptosis has been suggested as a major mechanism for the CD4(+) T-lymphocyte depletion observed in patients infected with human immunodeficiency virus 1 (HIV-1). To evaluate the impact of genetic variations to apoptosis during progression of acquired immunodeficiency syndrome (AIDS), we have performed an extensive genetic analysis of Fas and Fas ligand ( FasL) genes. The coding regions and promoters of these genes were resequenced in a cohort of 212 HIV-1-seropositive patients presenting extreme disease phenotypes and 155 healthy controls of Caucasian origin. Overall, 33 single nucleotide polymorphisms (SNPs) with an allele frequency >1% were identified and evaluated for their association with disease progression. Among them, 14 polymorphisms were newly characterized. We did not find any statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression.
authors.affiliation: Centre National de Génotypage, 2 rue Gaston Crémieux, 91000 Evry, France.
authors.forename: A
authors.initials: A
authors.lastname: Vasilescu
authors.forename: S C
authors.initials: SC
authors.lastname: Heath
authors.forename: G
authors.initials: G
authors.lastname: Diop
authors.forename: H
authors.initials: H
authors.lastname: Do
authors.forename: T
authors.initials: T
authors.lastname: Hirtzig
authors.forename: H
authors.initials: H
authors.lastname: Hendel
authors.forename: S
authors.initials: S
authors.lastname: Bertin-Maghit
authors.forename: J
authors.initials: J
authors.lastname: Rappaport
authors.forename: A
authors.initials: A
authors.lastname: Therwath
authors.forename: G M
authors.initials: GM
authors.lastname: Lathrop
authors.forename: F
authors.initials: F
authors.lastname: Matsuda
authors.forename: J-F
authors.initials: JF
authors.lastname: Zagury
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000209:etiology / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D000483:Alleles; D017209:Apoptosis / Q000235:genetics / Q000276:immunology; D016022:Case-Control Studies; D053222:Fas Ligand Protein; D005787:Gene Frequency; D014644:Genetic Variation; D023281:Genomics; D006239:Haplotypes; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D019014:fas Receptor / Q000235:genetics*
chemical_list: C505661:FASLG protein, human; D053222:Fas Ligand Protein; D008562:Membrane Glycoproteins; D019014:fas Receptor