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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.

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/3706582/43d7f0ccd8e4/pone.0067572.g001.jpg

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