title: The CCR5Δ32 polymorphism in Brazilian patients with sickle cell disease.
abstract: BACKGROUND
  Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5Δ32 allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because it leads to a less efficient Th1 response. We determined the frequency of the CCR5Δ32 polymorphism in 795 Afro-Brazilian SCD patients followed up at the Pernambuco Hematology and Hemotherapy Center, in Northeastern Brazil, divided into a pediatric group (3 months-17 years, n = 483) and an adult group (18-70 years, n = 312). The adult patients were also compared to a healthy control group (blood donors, 18-61 years, n = 247).
  
  
  METHODS
  The CCR5/CCR5Δ32 polymorphism was determined by allele-specific PCR.
  
  
  RESULTS
  No homozygous patient for the CCR5Δ32 allele was detected. The frequency of heterozygotes in the study population (patients and controls) was 5.8%, in the total SCD patients 5.1%, in the children 5.4%, in the adults with SCD 4.8%, and in the adult controls 8.1%. These differences did not reach statistical significance.
  
  
  CONCLUSIONS
  Our findings failed to demonstrate an important role of the CCR5Δ32 allele in the population sample studied here.
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Mariana Pezzute
authors.initials: MP
authors.lastname: Lopes
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Magnun Nueldo Nunes
authors.initials: MN
authors.lastname: Santos
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Eliel Wagner
authors.initials: EW
authors.lastname: Faber
authors.affiliation: Pernambuco Hematology and Hemotherapy Center, HEMOPE Foundation, 52011-900 Recife, PE, Brazil.
authors.forename: Marcos André Cavalcanti
authors.initials: MA
authors.lastname: Bezerra
authors.affiliation: Pernambuco Hematology and Hemotherapy Center, HEMOPE Foundation, 52011-900 Recife, PE, Brazil.
authors.forename: Betânia Lucena Domingues
authors.initials: BL
authors.lastname: Hatzlhofer
authors.affiliation: Hematology and Hemotherapy Center, UNICAMP, 13083-878 Campinas, SP, Brazil.
authors.forename: Dulcinéia Martins
authors.initials: DM
authors.lastname: Albuquerque
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Tânia Regina
authors.initials: TR
authors.lastname: Zaccariotto
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Daniela Maria
authors.initials: DM
authors.lastname: Ribeiro
authors.affiliation: Pernambuco Hematology and Hemotherapy Center, HEMOPE Foundation, 52011-900 Recife, PE, Brazil.
authors.forename: Aderson da Silva
authors.initials: Ada S
authors.lastname: Araújo
authors.affiliation: Hematology and Hemotherapy Center, UNICAMP, 13083-878 Campinas, SP, Brazil.
authors.forename: Fernando Ferreira
authors.initials: FF
authors.lastname: Costa
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Maria de Fátima
authors.identifier: 0000-0002-5193-8854
authors.initials: Mde F
authors.lastname: Sonati
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000235:genetics*; D001938:Brazil; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D019713:Receptors, CCR5 / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5