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ZNRD1 基因变异可预测中国台湾汉族人群 HIV-1/AIDS 的疾病进展。

Variants in ZNRD1 gene predict HIV-1/AIDS disease progression in a Han Chinese population in Taiwan.

机构信息

Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.

出版信息

PLoS One. 2013 Jul 9;8(7):e67572. doi: 10.1371/journal.pone.0067572. Print 2013.

DOI:10.1371/journal.pone.0067572
PMID:23874430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3706582/
Abstract

Patients demonstrate notable variations in disease progression following human immunodeficiency virus (HIV) infection. We aimed to identify ZNRD1 and RNF39 genetic variants linked to AIDS progression. We conducted a genetic association study in HIV-1-infected Han Chinese patients residing in Taiwan. The clinical characteristics of 143 HIV-1-infected patients were measured, and patients were split into 2 groups: AIDS progression and AIDS non-progression. Genotyping of ZNRD1 and RNF39 was performed in all participants. We found that patients in the AIDS progression group had higher HIV-1 viral loads and lower CD4 cell counts than did patients in the AIDS non-progression group. The frequency of the AA genotype of ZNRD1 (rs16896970) was lower in the AIDS progression group than in the AIDS non-progression group. Patients with AA genotypes had lower levels of HIV-1 viral loads and higher levels of CD4 cell counts than did patients with AG+GG genotypes. AIDS progression in patients with the AA group is significantly different from that in patients with the AG and GG groups by using Kaplan-Meier survival analysis. The hazard ratio for progression was lower in the AA group than in the AG and GG groups. We identified a SNP that contributes to AIDS progression in HIV-1-infected patients in this population. This SNP had a significant protective influence on AIDS progression, and polymorphisms of the ZNRD1 gene may play a role in the pathogenesis of HIV-1 infection.

摘要

患者在感染人类免疫缺陷病毒 (HIV) 后，其疾病进展情况存在显著差异。我们旨在鉴定与艾滋病进展相关的 ZNRD1 和 RNF39 遗传变异。我们在居住于台湾的汉族 HIV-1 感染者中进行了一项遗传关联研究。测量了 143 名 HIV-1 感染者的临床特征，并将患者分为 AIDS 进展组和 AIDS 非进展组。对所有参与者进行 ZNRD1 和 RNF39 的基因分型。我们发现，与 AIDS 非进展组相比，AIDS 进展组患者的 HIV-1 病毒载量更高，CD4 细胞计数更低。ZNRD1(rs16896970)AA 基因型的频率在 AIDS 进展组中低于 AIDS 非进展组。与 AG+GG 基因型相比，AA 基因型的患者 HIV-1 病毒载量更低，CD4 细胞计数更高。Kaplan-Meier 生存分析显示，AA 组患者 AIDS 进展与 AG 和 GG 组患者显著不同。与 AG 和 GG 组相比，AA 组的进展风险比更低。我们在该人群的 HIV-1 感染者中鉴定出一个与 AIDS 进展相关的 SNP。该 SNP 对 AIDS 进展具有显著的保护作用，ZNRD1 基因的多态性可能在 HIV-1 感染的发病机制中发挥作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6cf/3706582/38e0f0f260b4/pone.0067572.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6cf/3706582/43d7f0ccd8e4/pone.0067572.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6cf/3706582/38e0f0f260b4/pone.0067572.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6cf/3706582/43d7f0ccd8e4/pone.0067572.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6cf/3706582/38e0f0f260b4/pone.0067572.g002.jpg

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