Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians

Abstract

The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang Amerindians and the Oriental-Brazilians. R223Q is common in the Oriental-Brazilians (7.7%) and R60S in the Afro-Brazilians (5.0%). A29S and L55Q present an impaired response to β-chemokines and occurred in Afro- and Euro-Brazilians with cumulative frequencies of 4.4% and 2.7%, respectively. Two new non-synonymous alleles were found in Amerindians: C323F (g.3729G > T) in Guarani (1.4%) and Y68C (g.2964A > G) in Kaingang (10.3%). The functional characteristics of these alleles should be defined and considered in epidemiological investigations about HIV-1 infection and AIDS incidence in Amerindian populations.

Prevalence of CCR5-Δ32 and CCR2-V64I polymorphisms in a mixed population from northeastern Brazil

“…Remarkably, allele-D32 was more frequently found in individuals of European descent in southern Brazil. Boldt et al (2009) analyzed the distribution of this polymorphism in different ethnic groups residing in the State of Paraná in southern Brazil and found a frequency of 9.3% in a sample of 172 Euro-Brazilian individuals, which was significantly different from the population in this study (P < 0.05). Moreover, the frequency of this allele increased to 14.2% in a group of 53 Euro-Brazilian individuals whose ancestors were from or joined Mennonite settlements in southern Brazil (data not shown).…”

“…The population of this state comprised 60% European, 21.5% African, and 18.5% indigenous peoples. The distribution of CCR5-D32 and CCR2-64I polymorphisms has been studied in different regions in Brazil (Acosta et al, 2003;De Pinho Lott Carvalhaes et al, 2004;Boldt et al, 2009); however, the frequencies of these polymorphisms in Piauí have not been reported. Therefore, in this study, we analyzed the prevalence of the CCR5-D32 and CCR2-V64I polymorphisms in a sample population in the State of Piauí and compared their frequencies to those observed in Brazil and other countries.…”

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis

“…However, it was absent among African and East Asian individuals (Table 3). Studies have shown that the percentages of L55Q polymorphism were found to be 7.8%, 3-4% and 2.7% among Tunisians, Caucasians and Euro-Brazilians, respectively (Table 3) (Boldt et al, 2009;Carrington et al, 1999;Jlizi et al, 2007). The group from Tunisia noticed high frequency of the L55Q variant among individuals of Berber origin (Jlizi et al, 2007).…”

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

“…, 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).…”