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人类遗传变异与巴布亚新几内亚的艾滋病:是时候把这些点联系起来了。

Human Genetic Variation and HIV/AIDS in Papua New Guinea: Time to Connect the Dots.

机构信息

Center for Global Health and Diseases, Case Western Reserve University School of Medicine, Biomedical Research Building, #409A, 2109 Adelbert Rd., Cleveland, OH, 44106, USA.

出版信息

Curr HIV/AIDS Rep. 2018 Dec;15(6):431-440. doi: 10.1007/s11904-018-0417-9.

DOI:10.1007/s11904-018-0417-9
PMID:30218255
Abstract

PURPOSE OF REVIEW

Human genetic polymorphisms known to influence HIV acquisition and disease progression occur in Papua New Guinea (PNG). However, no genetic association study has been reported so far. In this article, we review research findings, with a view to stimulate genotype-to-phenotype research.

RECENT FINDINGS

PNG, a country in Oceania, has a high prevalence of HIV and many sexually transmitted infections. While limited data is available from this country regarding the distribution of human genetic polymorphisms known to influence clinical outcomes of HIV/AIDS, genetic association studies are lacking. Our studies, in the past decade, have revealed that polymorphisms in chemokine receptor-ligand (CCR2-CCR5, CXCL12), innate immune (Toll-like receptor, β-defensin), and antiretroviral drug-metabolism enzyme (CYP2B6, UGT2B7) genes are prevalent in PNG. Although our results need to be validated in further studies, it is urgent to pursue large-scale, comprehensive genetic association studies that include these as well as additional genetic polymorphisms.

摘要

目的综述

已知影响人类获得性免疫缺陷病毒(HIV)感染和疾病进展的遗传多态性在巴布亚新几内亚(PNG)存在。但迄今为止,尚未有遗传关联研究的报道。本文旨在通过对现有研究成果的综述,为今后开展基因型-表型相关性研究提供参考。

最近的发现

PNG 是大洋洲的一个国家,HIV 和许多性传播感染的流行率都很高。虽然有关影响 HIV/AIDS 临床结局的已知人类遗传多态性在该地区的分布数据有限,但遗传关联研究仍较为缺乏。过去十年,我们的研究揭示了趋化因子受体配体(CCR2-CCR5、CXCL12)、先天免疫(Toll 样受体、β-防御素)和抗逆转录病毒药物代谢酶(CYP2B6、UGT2B7)基因的多态性在 PNG 很常见。尽管我们的研究结果需要在进一步的研究中得到验证,但迫切需要开展大规模、全面的遗传关联研究,包括这些基因以及其他遗传多态性。

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P N G Med J. 2017 Mar-Jun;60(1-2):51-59.
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Pharmacogenomics in Papua New Guineans: unique profiles and implications for enhancing drug efficacy while improving drug safety.巴布亚新几内亚人的药物基因组学:独特特征及其对提高药物疗效和改善药物安全性的意义。
Pharmacogenet Genomics. 2018 Jun;28(6):153-164. doi: 10.1097/FPC.0000000000000335.
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The Role of Defensins in HIV Pathogenesis.防御素在 HIV 发病机制中的作用。
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