意大利人群样本中CCR5和CCR2基因的等位基因分布。

Allelic distribution of CCR5 and CCR2 genes in an Italian population sample.

作者信息

Romano-Spica V, Ianni A, Arzani D, Cattarini L, Majore S, Dean M

机构信息

Institute of Hygiene and Public Health, Faculty of Medicine of the Catholic University, Rome, Italy.

出版信息

AIDS Res Hum Retroviruses. 2000 Jan 20;16(2):99-101. doi: 10.1089/088922200309430.

DOI:10.1089/088922200309430

PMID:10659048

Abstract

Genetic polymorphisms of CCR5 and CCR2 human chemokine receptors have been associated with resistance during HIV-1 infection and disease progression. The protective effect of mutant alleles at these loci has important implications in AIDS pathogenesis. Chemokine receptors have a role in viral entry into target cells as well as in immune response modulation. In the present report, we studied the frequency of CCR5delta32 and CCR264I allelic variants among a representative sample of the Italian population. Observed allelic frequencies were 0.0454 and 0.0655, respectively. In both cases, genotype distribution was in equilibrium as predicted by the Hardy-Weinberg equation. Taken as a whole, about 21% of the population sample was found to be heterozygous for one or another of those two mutated alleles. Distribution of CCR5delta32 and CCR264I allelic variants within a population can be considered as a measure of genetic susceptibility to HIV infection and disease progression.

摘要

人类趋化因子受体CCR5和CCR2的基因多态性与HIV-1感染期间的耐药性及疾病进展相关。这些位点突变等位基因的保护作用在艾滋病发病机制中具有重要意义。趋化因子受体在病毒进入靶细胞以及免疫反应调节方面发挥作用。在本报告中，我们研究了意大利人群代表性样本中CCR5delta32和CCR264I等位基因变体的频率。观察到的等位基因频率分别为0.0454和0.0655。在这两种情况下，基因型分布均符合哈迪-温伯格平衡。总体而言，约21%的人群样本被发现对这两种突变等位基因中的一种或另一种呈杂合状态。人群中CCR5delta32和CCR264I等位基因变体的分布可被视为对HIV感染和疾病进展的遗传易感性指标。