期刊文献

Genetic Variants in the NOD-like Receptor Signaling Pathway Are Associated with HIV-1/AIDS in a Northern Chinese Population 收藏

点头样受体信号通路中的遗传变异与北方人口中的HIV-1/AIDS有关
原文求助 发布源
作者
Tingyu Pan [1];Yi Yang [2];Xia Zhang [3];Chenghong You [4];Jiawei Wu [5];Lidan Xu [6];Wei Ji [7];Xueyuan Jia [8];Jie Wu [9];Wenjing Sun [10];Songbin Fu [11];Xuelong Zhang (https://orcid.org/0000-0002-1344-8619) [12];Yuandong Qiao (https://orcid.org/0000-0002-0098-4551) [13];
作者单位
[1]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [2]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [3]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [4]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [5]Key Laboratory of Frigid Zone Exercise Health Research and Translation in Heilongjiang Province, Harbin Medical University, Daqing 163319, China; [6]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [7]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [8]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [9]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [10]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [11]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [12]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China; [13]Department of Medical Genetics, School of Basic Medical Sciences, Harbin Medical University, Harbin 150081, China;
发布日期
2025-4-8
页码
3484
DOI
10.3390/ijms26083484
来源信息
International Journal of Molecular Sciences ISSN：1422-0067, 2025年, 26卷, 8期, 3484页
摘要
The NOD-like receptor (NLR) signaling pathway may influence human immunodeficiency virus (HIV) clearance and CD4+ T cell recovery through inflammatory responses, but its specific mechanism requires further investigation. A deeper understanding of genetic variations can provide new insights into the biological mechanisms underlying the occurrence and development of immunodeficiency syndrome (AIDS). By utilizing multiple bioinformatic analyses and functional annotations, we identified single-nucleotide polymorphisms (SNPs) in the NLR signaling pathway that may affect HIV-1 infection and AIDS progression. Then, a case–control study was performed to screen risk-related variants by genotyping candidate SNPs in a sample of 500 men who have sex with men (MSM) with HIV-1 and 500 healthy controls from the Han population in Northern China. The results revealed significant association between five SNPs (NLRP3 rs4612666, MAVS rs17857295, MAVS rs6084497, MAVS rs16989000, and JAK1 rs4244165) and HIV-1 infection. Interestingly, the gene–gene interaction model composed of five SNPs exhibited a cumulative effect on the disease. Specially, the increase in risk alleles carried by the samples elevated the risk of contracting HIV-1. In addition, three SNPs (IL1B rs1143623, STAT1 rs1467199 and STAT1 rs2066804) were associated with CD4+ T cell counts in patients with AIDS. Three SNPs (OAS1 rs1131454, NLRP3 rs10754558, and MAVS rs867335) were found to be related to the clinical staging of AIDS. This finding provides insights into the genetic variants in NLR signaling pathway genes in HIV-1 infection and AIDS progression among MSM in Northern China.
摘要译文
点头样受体（NLR）信号通路可能会影响人类免疫缺陷病毒（HIV）清除率和CD4+ T细胞通过炎症反应恢复，但其具体机​​制需要进一步研究。对遗传变异的深入了解可以为免疫缺陷综合征（AIDS）的发生和发展的生物学机制提供新的见解。通过利用多种生物信息学分析和功能注释，我们在NLR信号通路中确定了可能影响HIV-1感染并有助于进展的NLR信号传导途径中的单核苷酸多态性（SNP）。然后，通过在500名与男性发生性关系的男性（MSM）的样本中，通过基因分型候选SNP进行了基因分型候选SNP进行筛查与风险相关的变体，并从中国北部的HAN种群中进行了500个健康对照。结果表明，五个SNP（NLRP3 RS4612666，MAVS RS17857295，MAVS RS6084497，MAVS RS16989000和JAK1 RS4244165）和HIV-1感染之间的显着关联。有趣的是，由五个SNP组成的基因 - 基因相互作用模型对该疾病表现出累积影响。特别是，样品携带的风险等位基因的增加增加了患HIV-1的风险。此外，在艾滋病患者中，三个SNP（IL1B RS1143623，STAT1 RS1467199和STAT1 RS2066804）与CD4+ T细胞计数有关。发现三个SNP（OAS1 RS1131454，NLRP3 RS10754558和MAVS RS867335）与艾滋病的临床分期有关。这一发现提供了对HIV-1感染中NLR信号通路基因的遗传变异的见解，并有助于中国北部MSM的进展。
Tingyu Pan [1];Yi Yang [2];Xia Zhang [3];Chenghong You [4];Jiawei Wu [5];Lidan Xu [6];Wei Ji [7];Xueyuan Jia [8];Jie Wu [9];Wenjing Sun [10];Songbin Fu [11];Xuelong Zhang (https://orcid.org/0000-0002-1344-8619) [12];Yuandong Qiao (https://orcid.org/0000-0002-0098-4551) [13];. Genetic Variants in the NOD-like Receptor Signaling Pathway Are Associated with HIV-1/AIDS in a Northern Chinese Population[J]. International Journal of Molecular Sciences, 2025,26(8): 3484