肿瘤坏死因子区域多态性与艾滋病及巨细胞病毒性视网膜炎相关。

Tumor necrosis factor region polymorphisms are associated with AIDS and with cytomegalovirus retinitis.

作者信息

Deghaide Neifi H S, Rodrigues Maria de L V, Castelli Erick C, Mendes-Junior Celso T, Figueiredo José F C, Donadi Eduardo A

机构信息

Division of Clinical Immunology, Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.

出版信息

AIDS. 2009 Aug 24;23(13):1641-7. doi: 10.1097/QAD.0b013e32832e5591.

DOI:10.1097/QAD.0b013e32832e5591

PMID:19542865

Abstract

BACKGROUND

The tumor necrosis factor (TNF) gene is located within the highly polymorphic major histocompatibility complex region, exhibiting the -308 GA promoter region polymorphism and six microsatellites (TNFa-f) spanning the region nearby the TNF locus.

OBJECTIVE

In the present study, we evaluated the frequency of -308 GA and TNFa-e polymorphisms and respective haplotypes (in chromosomal sequence: TNFd-TNFe-308GA-TNFc-TNFa-TNFb), in 222 patients with AIDS, 52 of whom exhibited cytomegalovirus retinitis, and in 202 healthy HIV-negative individuals.

METHOD

TNF microsatellite and single nucleotide polymorphism typings were performed by PCR followed by polyacrylamide gel electrophoresis.

RESULTS

The TNF-308A allele and the 4-3-G-2-7-1 haplotype were associated with susceptibility to AIDS, whereas the TNFb4 allele and the 3-3-G-1-11-4 haplotype were associated with protection against AIDS development. The TNFc2 allele and the 4-1-G-2-2-1 haplotype, which contains the TNFc2 allele, were associated with cytomegalovirus retinitis.

CONCLUSION

This study highlights that polymorphic sites spanning the region nearby the TNF locus are associated with AIDS per se and with cytomegalovirus retinitis in AIDS patients.

摘要

背景

肿瘤坏死因子（TNF）基因位于高度多态性的主要组织相容性复合体区域内，呈现出 -308 GA启动子区域多态性以及跨越TNF基因座附近区域的六个微卫星（TNFa - f）。

目的

在本研究中，我们评估了222例艾滋病患者（其中52例患有巨细胞病毒性视网膜炎）以及202名健康的HIV阴性个体中 -308 GA和TNFa - e多态性以及各自单倍型（染色体序列：TNFd - TNFe - 308GA - TNFc - TNFa - TNFb）的频率。

方法

通过PCR随后进行聚丙烯酰胺凝胶电泳进行TNF微卫星和单核苷酸多态性分型。

结果

TNF - 308A等位基因和4 - 3 - G - 2 - 7 - 1单倍型与艾滋病易感性相关，而TNFb4等位基因和3 - 3 - G - 1 - 11 - 4单倍型与预防艾滋病发展相关。TNFc2等位基因以及包含TNFc2等位基因的4 - 1 - G - 2 - 2 - 单倍型与巨细胞病毒性视网膜炎相关。