title: Association of the genetic marker for abacavir hypersensitivity HLA-B*5701 with HCP5 rs2395029 in Mexican Mestizos.
abstract: Prospective screening for HLA-B*5701 decreases or abolishes abacavir hypersensitivity reaction. In Caucasians, the HLA complex protein 5 gene (HCP5) rs2395029(G) allele is in complete linkage disequilibrium (LD) with HLA-B*5701 (r(2) = 1).
  
  
  OBJECTIVE
  To assess the frequency of HLA-B*5701 and its LD with HCP5 rs2395029(G) allele, to extend our knowledge of genetic variants that are of critical relevance for the development of pharmacogenetics in Mexico.
  
  
  METHODS
  We genotyped 300 Mexican Mestizos from the Mexican Genome Diversity Project. HLA-B*5701 genotyping was performed using a DNA sequencing method. HCP5 rs2395029 was genotyped using a custom TaqMan(®) SNP genotyping assay and confirmed by direct sequencing. Genotypes for 14 SNPs in the HCP5 region were retrieved from the Mexican Genome Diversity Project database for LD analysis.
  
  
  RESULTS
  HLA-B*5701 carrier frequency was 2% and the allelic frequency was 0.010. Haplotype analysis revealed that HLA-B*5701 and the HCP5 rs2395029(G) allele are in complete LD (r(2) = 1) in this Mexican Mestizos sample.
  
  
  CONCLUSIONS
  It is feasible to have a pharmacogenetic program based on HCP5 rs2395029 genotyping as a screening tool with confirmation of HLA-B*5701 carriage by sequenciation, to prevent abacavir hypersensitivity reaction in Mexican patients before initiating abacavir therapy.
authors.affiliation: National Institute of Genomic Medicine, Periferico Sur No. 4124, Torre Zafiro II, 6to. Piso, Col. Jardines del Pedregal, Mexico D.F. 01900, Mexico.
authors.forename: Francisco
authors.initials: F
authors.lastname: Sanchez-Giron
authors.forename: Beatriz
authors.initials: B
authors.lastname: Villegas-Torres
authors.forename: Karla
authors.initials: K
authors.lastname: Jaramillo-Villafuerte
authors.forename: Irma
authors.initials: I
authors.lastname: Silva-Zolezzi
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Fernandez-Lopez
authors.forename: Gerardo
authors.initials: G
authors.lastname: Jimenez-Sanchez
authors.forename: Alessandra
authors.initials: A
authors.lastname: Carnevale
mesh_terms: D000483:Alleles; D015224:Dideoxynucleosides / Q000009:adverse effects* / Q000627:therapeutic use; D004342:Drug Hypersensitivity / Q000235:genetics* / Q000276:immunology; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015235:HLA-B Antigens / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008285:Major Histocompatibility Complex / Q000235:genetics* / Q000276:immunology; D008800:Mexico; D010597:Pharmacogenetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D018894:Reverse Transcriptase Inhibitors / Q000009:adverse effects* / Q000627:therapeutic use; D000099227:Abacavir
chemical_list: D015224:Dideoxynucleosides; D005819:Genetic Markers; D015235:HLA-B Antigens; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D018894:Reverse Transcriptase Inhibitors; D000099227:Abacavir; C080521:HCP5 long noncoding RNA, human; C484830:HLA-B*57:01 antigen