CCR5D32 mutation in three Brazilian populations of predominantly Sub-Saharan African ancestry

Carvalho, Mônica W. P. de; Leboute, Ana Paula Magalhães; Oliveira, Silviene Fabiana de; Sousa, Sandra Maria Zákia Lian; Klautau‐Guimarães, Maria de Nazaré; Simões, Aguinaldo L.

doi:10.1590/s1415-47572004000300002

Cited by 7 publications

(6 citation statements)

References 16 publications

(22 reference statements)

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“…The numbers are lower when we consider the black Brazilian populations, ranging from 0.7 to 2.6% (14,15, present study), and are indicative of an inverse gradient. Curiously, rural black populations, which are usually the descendants of "quilombos" (communities founded by fugitive slaves at colonial times), show average CCR5∆32 allele frequency values similar to those observed in urban black samples (14,15). These results suggest that the level of introgression of European genes in these small rural communities is not very different from that observed in urban groups.…”

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confidence: 56%

Frequency of CCR5delta32 in Brazilian populations

Vargas

Marrero

Salzano

et al. 2006

Braz J Med Biol Res

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A sample of 103 randomly chosen healthy individuals from Alegrete, RS, Brazil, was tested for the CCR5∆32 allele, which is known to influence susceptibility to HIV-1 infection. The CCR5∆32 allele was identified by PCR amplification using specific primers flanking the region of deletion, followed by electrophoresis on a 3% agarose gel. The data obtained were compared to those reported for other populations and interpreted in terms of Brazilian history. The individuals studied came from a highly admixed population. Most of them were identified as white (N = 59), while blacks and browns (mulattoes) were N = 13 and N = 31, respectively. The observed frequencies, considering the white, black and brown samples (6.8, 3.8, and 6.4%, respectively), suggest an important European parental contribution, even in populations identified as black and brown. However, in Brazil as a whole, this allele shows gradients indicating a relatively good correlation with the classification based on skin color and other physical traits, used here to define major Brazilian population groups. Correspondence

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confidence: 56%

Frequency of CCR5delta32 in Brazilian populations

Vargas

Marrero

Salzano

et al. 2006

Braz J Med Biol Res

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“…, 0.6% in Cepem, 0.7% in African-Brazilian populations from Pará (Carvalhaes et al , 2004), 0.9 and 1.0% in Bahia (Carvalho et al , 2004), 1.8% in Candelária and Bate-Estaca and 1.9% and 2.0% in African-Brazilian individuals in Rio de Janeiro (Chies and Hutz, 2003) and Paraná (Boldt et al , 2009), respectively. Among HIV + subjects, frequencies ranged from 2.1% in Rio de Janeiro (Teixeira et al , 2009) to 2.4% in Rio Grande do Sul (Vieira et al , 2011), 2.6% in a miscegenated population in Bahia (Grimaldi et al , 2002) and 3.8% in São Paulo (Rigato et al , 2008).…”

Section: Resultsmentioning

confidence: 99%

“…However, our frequencies were lower than the 4.4% observed in the Euro-Brazilian population of Porto Alegre, and the 4.7% and 5.8% of patients with sickle-cell anemia, thus of African descent, from Recife and Porto Alegre (RS), respectively ( Chies and Hutz, 2003 ). Brazilian populations described as Afro-Brazilian presented allele frequencies of 5.6% in the state of Bahia ( Carvalho et al , 2004 ) and 8.0% in the state of Rio Grande do Sul. The populations described as Euro-Brazilians generally presented the highest frequencies in the southern states: 6.5% in Joinville, State of Santa Catarina; 6.5% in Alegrete, State of Rio Grande do Sul; and 9.3% in the State of Paraná ( Grimaldi et al , 2002 ; Vargas et al , 2006 ; Boldt et al , 2009 , respectively).…”

Section: Resultsmentioning

confidence: 99%

Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondônia, Western Amazonian region, Brazil

Farias¹,

Santos

França

et al. 2012

Genet. Mol. Biol.

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Since around 1723, on the occasion of its initial colonization by Europeans, Rondonia has received successive waves of immigrants. This has been further swelled by individuals from northeastern Brazil, who began entering at the beginning of the twentieth century. The ethnic composition varies across the state according to the various sites of settlement of each wave of immigrants. We analyzed the frequency of the CCR5Δ32 allele of the CCR5 chemokine receptor, which is considered a Caucasian marker, in five sample sets from the population. Four were collected in Porto Velho, the state capital and the site of several waves of migration. Of these, two, from the Hospital de Base were comprised of HB Mothers and HB Newborns presenting allele frequencies of 3.5% and 3.1%, respectively, a third from the peri-urban neighborhoods of Candelária/Bate-Estaca (1.8%), whereas a fourth, from the Research Center on Tropical Medicine/CEPEM (0.6%), was composed of malaria patients under treament. The fifth sample (3.4%) came from the inland Quilombola village of Pedras Negras. Two homozygous individuals (CCR5Δ32/CCR5Δ32) were detected among the HB Mother samples. The frequency of this allele was heterogeneous and higher where the European inflow was more pronounced. The presence of the allele in Pedras Negras revealed European miscegenation in a community largely comprising Quilombolas.

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“…The CCR5D32 polymorphism (reference SNP ID number: rs333) is a genetic variant that originated in the European population (40), and therefore can be used as an ancestry-informative marker in studies involving population genetics and genome ancestry (41,42). This variant represents a 32-base pair deletion in the CCR5 gene (chromosome 3; 3p.21.31), a fundamental component of the immune system responsible for encoding the CCR5 protein, which acts mainly in the regulation of inflammatory cell migration.…”

Section: Pivotal Information Regarding the Ccr5d32 Variantmentioning

confidence: 99%

“…The CCR5D32 allele was found in the three communities evaluated, but only in heterozygosis, with allele frequencies of 5.6% in Mocambo, 1% in Rio das Rãs, and 0.9% in São Goncalo. According to the authors, the differences in allele frequencies can be due to several factors, including different proportions of parental populations in the founder's individuals, a foundereffect, and different patterns of inter-ethnic contact (41).…”

Section: Ccr5d32 Frequency In Brazilmentioning

confidence: 99%

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

Kulmann-Leal

Ellwanger

2021

Front. Immunol.

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The genetic background of Brazilians encompasses Amerindian, African, and European components as a result of the colonization of an already Amerindian inhabited region by Europeans, associated to a massive influx of Africans. Other migratory flows introduced into the Brazilian population genetic components from Asia and the Middle East. Currently, Brazil has a highly admixed population and, therefore, the study of genetic factors in the context of health or disease in Brazil is a challenging and remarkably interesting subject. This phenomenon is exemplified by the genetic variant CCR5Δ32, a 32 base-pair deletion in the CCR5 gene. CCR5Δ32 originated in Europe, but the time of origin as well as the selective pressures that allowed the maintenance of this variant and the establishment of its current frequencies in the different human populations is still a field of debates. Due to its origin, the CCR5Δ32 allele frequency is high in European-derived populations (~10%) and low in Asian and African native human populations. In Brazil, the CCR5Δ32 allele frequency is intermediate (4-6%) and varies on the Brazilian States, depending on the migratory history of each region. CCR5 is a protein that regulates the activity of several immune cells, also acting as the main HIV-1 co-receptor. The CCR5 expression is influenced by CCR5Δ32 genotypes. No CCR5 expression is observed in CCR5Δ32 homozygous individuals. Thus, the CCR5Δ32 has particular effects on different diseases. At the population level, the effect that CCR5Δ32 has on European populations may be different than that observed in highly admixed populations. Besides less evident due to its low frequency in admixed groups, the effect of the CCR5Δ32 variant may be affected by other genetic traits. Understanding the effects of CCR5Δ32 on Brazilians is essential to predict the potential use of pharmacological CCR5 modulators in Brazil. Therefore, this study reviews the impacts of the CCR5Δ32 on the Brazilian population, considering infectious diseases, inflammatory conditions, and cancer. Finally, this article provides a general discussion concerning the impacts of a European-derived variant, the CCR5Δ32, on a highly admixed population.

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CCR5D32 mutation in three Brazilian populations of predominantly Sub-Saharan African ancestry

Cited by 7 publications

References 16 publications

Frequency of CCR5delta32 in Brazilian populations

Frequency of CCR5delta32 in Brazilian populations

Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondônia, Western Amazonian region, Brazil

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

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