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.
journal_name
Dis Markersjournal_title
Disease markersauthors
Lopes MP,Santos MN,Faber EW,Bezerra MA,Hatzlhofer BL,Albuquerque DM,Zaccariotto TR,Ribeiro DM,Araújo Ada S,Costa FF,Sonati Mde Fdoi
10.1155/2014/678246subject
Has Abstractpub_date
2014-01-01 00:00:00pages
678246eissn
0278-0240issn
1875-8630journal_volume
2014pub_type
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