Williamson C, Loubser S A, Brice B, Joubert G, Smit T, Thomas R, Visagie M, Cooper M, van der Ryst E
SAIMR Virology, Department of Medical Microbiology, University of Cape Town, Observatory, South Africa.
AIDS. 2000 Mar 10;14(4):449-51. doi: 10.1097/00002030-200003100-00020.
Limited information is available on the prevalence in African populations of host genetic polymorphisms conferring resistance to HIV-1 infection and disease. The objective of this study was to determine the allelic frequencies in South African populations of the chemokine receptor gene variants CCR5delta32, CCR5m303 and CCR2b-641 and the CXCR4 ligand gene variant SDF1-3'A.
Cross-sectional study to determine the prevalence of these gene variants in South African subjects of African and European descent.
The CCR5delta32 genetic variant is rare in individuals of African origin, having an allelic frequency of 0.1% (n = 1247) compared with 9.8% (n = 144) in Caucasians. The CCR5m303 mutation was not detected in Africans (n = 687), whereas an allelic frequency of 0.9% (n = 145) was identified in Caucasians. The frequency of CCR2b-641 allele was 13.1% (n = 180) in Africans, which was significantly higher that the 7.2% (n = 146) detected in Caucasians. Finally the allelic frequency of the SDF1-3'A gene variant was only 1.0% (n = 198) in Africans compared with 19.8% (n = 145) in Caucasians.
These results indicate that genetic polymorphisms conferring resistance to HIV-1 infection are rare in the South African Black population. Except for the CCR2b-641 gene variant, individuals of African origin also had a much lower prevalence of genetic variants associated with prolonged disease progression.
关于非洲人群中赋予对HIV-1感染和疾病抗性的宿主基因多态性的流行情况，现有信息有限。本研究的目的是确定南非人群中趋化因子受体基因变体CCR5delta32、CCR5m303和CCR2b - 641以及CXCR4配体基因变体SDF1 - 3'A的等位基因频率。
采用横断面研究来确定这些基因变体在南非非洲裔和欧洲裔受试者中的流行情况。
CCR5delta32基因变体在非洲裔个体中罕见，等位基因频率为0.1%（n = 1247），而在白种人中为9.8%（n = 144）。在非洲人（n = 687）中未检测到CCR5m303突变，而在白种人中确定的等位基因频率为0.9%（n = 145）。非洲人CCR2b - 641等位基因频率为13.1%（n = 180），显著高于在白种人中检测到的7.2%（n = 146）。最后，SDF1 - 3'A基因变体的等位基因频率在非洲人中仅为1.0%（n = 198），而在白种人中为19.8%（n = 145）。
这些结果表明，赋予对HIV-1感染抗性的基因多态性在南非黑人人群中罕见。除CCR2b - 641基因变体外，非洲裔个体中与疾病进展延长相关的基因变体流行率也低得多。
