title: Association study of polymorphisms in the receptor for advanced glycation end-products (RAGE) gene with susceptibility and prognosis of heart failure.
abstract: BACKGROUND
  Functional polymorphisms in the receptor for advanced glycation end-products (RAGE) gene have been implicated in several vascular diseases. However, to date, no study investigated the association of RAGE polymorphisms with heart failure (HF).
  
  
  OBJECTIVE
  In this study we tested the hypothesis that the 63-bp insertion/deletion, the -374T>A (rs1800624) and the -429T>C (rs1800625) polymorphisms in the RAGE gene might be associated with susceptibility to HF and could predict all-cause mortality in Brazilian outpatients with left ventricular systolic dysfunction.
  
  
  METHODS
  A total of 273 consecutive HF patients (196 Caucasian- and 77 African-Brazilians) and 334 healthy blood donors (260 Caucasian- and 74 African-Brazilians) were enrolled in a tertiary care university hospital. Genotyping of RAGE polymorphisms was done by polymerase chain reaction (PCR) or PCR followed by enzyme restriction analysis.
  
  
  RESULTS
  The allele, genotype and haplotype frequencies of -374T>A and -429T>C polymorphisms were not significantly different between HF patients and healthy blood donors in both ethnic groups. However, among African-Brazilians, the frequency of carriership of the del allele was lower in HF patients than in blood donors (2.6% vs 12.2%, respectively, p=0.008). Patients were followed-up for a median of 38 months and the survival analysis did not reveal a consistent association between RAGE polymorphisms and all-cause death in both ethnic groups.
  
  
  CONCLUSIONS
  The -374T>A and -429T>C polymorphisms in the RAGE gene were not associated with the susceptibility and prognosis of HF. Notwithstanding, the 63-bp ins/del polymorphism might be involved in the susceptibility to HF in African-Brazilians.
authors.affiliation: Cardiology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. inacohen@gmail.com
authors.forename: Carolina Rodrigues
authors.initials: CR
authors.lastname: Cohen
authors.forename: Vanessa Backes Nascimento
authors.initials: VB
authors.lastname: Diel
authors.forename: Vanessa Laubert
authors.initials: VL
authors.lastname: La Porta
authors.forename: Luís Eduardo
authors.initials: LE
authors.lastname: Rohde
authors.forename: Andréia
authors.initials: A
authors.lastname: Biolo
authors.forename: Nadine
authors.initials: N
authors.lastname: Clausell
authors.forename: Kátia Gonçalves
authors.initials: KG
authors.lastname: Dos Santos
mesh_terms: D000368:Aged; D000483:Alleles; D044383:Black People / Q000235:genetics; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006333:Heart Failure / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D053208:Kaplan-Meier Estimate; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic