Pros and cons of a missing chemokine receptor—Comments on “Is the European spatial distribution of the HIV-1-resistant CCR5-Δ32 allele formed by a breakdown of the pathocenosis due to the historical Roman expansion?” by Eric Faure and Manuela Royer-Carenzi (2008)

Vargas, Andréia Escosteguy; Cechim, Giovana; Correa, Juliana Ferraz de; Gomes, Patrícia; Macedo, Gabriel de Souza; Medeiros, Rúbia Marília de; Perotoni, Gabriel; Rauber, Rafael; Villodre, Emilly Schlee

doi:10.1016/j.meegid.2009.01.001

Cited by 15 publications

(12 citation statements)

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“…Its frequency varies widely around the world, but it is much lower in populations of American, African, and East Asian origin [ 17 – 23 ]. Its presence seems to confer an advantage on certain populations in the face of environmental changes [ 20 ] or, in contrast, be a risk factor for developing certain infections [ 21 ]. According to some authors, the distribution of the CCR5Δ32 allele therefore depends on genetic and environmental interactions that result in an advantage or disadvantage for its carriers [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

TheCCR5Δ32Polymorphism in Brazilian Patients with Sickle Cell Disease

et al. 2014

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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.

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Section: Discussionmentioning

confidence: 99%

TheCCR5Δ32Polymorphism in Brazilian Patients with Sickle Cell Disease

et al. 2014

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“…This allele displays a curious distribution in the population: It is absent in native populations of the Americas and Oceania, almost completely absent in native populations of Africa and Asia and has a north-south gradient in Caucasian populations of Europe. 7 The approximate frequency of the allele is 10% in Europe and 5% outside Europe. 8 Several studies have addressed CCR5 and the CCR5delta32 polymorphic variant molecule since it was described as a human immunodeficiency virus-1 (HIV-1) co-receptor, 9,10 due to the fact that this variant confers relative resistance to HIV-1 infection.…”

Section: Introductionmentioning

confidence: 99%

CCR5delta32 in systemic lupus erythematosus: implications for disease susceptibility and outcome in a Brazilian population

Schauren

Marasca

Veit

et al. 2013

Lupus

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The aim of this study was to analyze the allelic and genotypic frequencies of the CCR5delta32 polymorphism in systemic lupus erythematosus (SLE) patients and to investigate a possible association of this allele with SLE susceptibility and clinical outcome. A total of 367 SLE patients and 435 healthy controls were genotyped for the CCR5delta32 polymorphism. We observed that, in European-derived individuals, the frequency of the CCR5delta32 allele was smaller in patients than in controls (2.7% vs. 7.5%, OR 0.34, 95% CI 0.17-0.65, p Bonf=0.002), suggesting that this allele could be considered a protective factor for the disease. Regarding clinical manifestations, we observed that CCR5delta32 female African-derived carrier patients presented a higher predisposition to class IV nephritis when compared with absent nephritis/other class group (13.8% vs. 3.8%, OR 37.1, 95% CI 2.8-1854.7, p Bonf=0.030). A multivariate analysis including all female patients and controlling for the presence or absence of anti-dsDNA antibodies, ethnicity and age at diagnosis showed an increased relative risk of 3.9 times for patients carrying the CCR5delta32 allele to develop class IV nephritis as compared with noncarriers. Our data suggest that the CCR5delta32 allele is a protective factor for the disease in European-derived patients and a susceptibility factor to class IV nephritis in African-derived female patients.

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“…All these studies, added to the fact that six patients on the study from Hinks et al were also CCR5Δ32 homozygous indicate that the absence of a functional CCR5 molecule does not prevent JIA development. Actually, the absence of a functional CCR5 molecule was already associated with deleterious symptoms, or negative outcomes, in several different inflammatory and infectious diseases and even with cancer development (see review [20]).…”

Section: Dear Editormentioning

confidence: 99%