Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba, PR Brazil.
Genet Mol Biol. 2009 Jan;32(1):12-9. doi: 10.1590/S1415-47572009005000011. Epub 2009 Jan 16.
The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5D32 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.
CC 趋化因子受体 5（CCR5）分子是 HIV 的重要共受体。CCR5D32 等位基因在 HIV 感染易感性和艾滋病发病中的作用是众所周知的。以前从未分析过 CCR5D32 以外的其他等位基因，无论是在美洲印第安人还是在世界大多数人群中。我们调查了南巴西 CCR5 编码区等位基因的分布，发现在巴西南部的欧洲裔巴西人群中，CCR5*D32 出现的频率很高（9.3%），这是迄今为止拉丁美洲报道的最高频率。D32 频率在欧洲裔巴西门诺派教徒（14.2%）中更高。该等位基因在非裔巴西人中很少见（2.0%），在瓜拉尼印第安人中罕见（0.4%），在卡扬格印第安人和东方巴西人中不存在。R223Q 在东方巴西人中很常见（7.7%），R60S 在非裔巴西人中罕见（5.0%）。A29S 和 L55Q 对β-趋化因子的反应受损，在非裔和欧洲裔巴西人中的累积频率分别为 4.4%和 2.7%。在美洲印第安人中发现了两个新的非同义等位基因：瓜拉尼语中的 C323F（g.3729G > T）（1.4%）和卡扬格语中的 Y68C（g.2964A > G）（10.3%）。这些等位基因的功能特征应在关于 HIV-1 感染和艾滋病发病率的美洲印第安人群的流行病学研究中加以确定和考虑。
