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The CCR5 Delta 32 Polymorphism in Brazilian Patients with Sickle Cell Disease

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Lopes, Mariana Pezzute ; Nunes Santos, Magnun Nueldo ; Faber, Eliel Wagner ; Cavalcanti Bezerra, Marcos Andre ; Domingues Hatzlhofer, Betania Lucena ; Albuquerque, Dulcineia Martins ; Zaccariotto, Tania Regina ; Ribeiro, Daniela Maria ; Araujo, Aderson da Silva ; Costa, Fernando Ferreira ; Sonati, Maria de Fatima
Total Authors: 11
Document type: Journal article
Source: DISEASE MARKERS; v. 2014, p. 4-pg., 2014-01-01.
Abstract

Background. Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5 Delta 32 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 CCR5 Delta 32 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/CCR5 Delta 32 polymorphism was determined by allele-specific PCR. Results. No homozygous patient for the CCR5 Delta 32 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 CCR5 Delta 32 allele in the population sample studied here. (AU)

FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
Grantee:Fernando Ferreira Costa
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 11/02622-3 - Inflammatory aspects versus haptoglobin and hemopexin genotypes and presence of the ccr5d32 polymorphism in sickle cell anemia patients
Grantee:Maria de Fatima Sonati
Support Opportunities: Regular Research Grants