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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Tuberculosis, or TB, is a bacterial infectious disease caused by Mycobacterium tuberculosis. While its primary impact is on the lungs, leading to pulmonary tuberculosis, it can also affect various other organs, a condition referred to as extrapulmonary tuberculosis.
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Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
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氧化合成酶2 (NOS2) 基因多形态与肺结核 (PTB) 风险相关:一个病例对照研究

Ebrahim Alijani1, Mahboobeh Sabeti Akbar-Abad2,3, Hossein Shahriari1

  • 1Clinical Immunology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran, zaums.ac.ir.

BioMed research international
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概括

氧化合成酶2 (NOS2) 基因的遗传变异会影响肺结核 (PTB) 的风险. 发现特定的NOS2多态,rs2297518和rs1800482,降低了PTB风险,而rs9282799增加了它.

关键词:
氧化合成酶2 (NOS2) 的使用.多形态主义的多态主义.肺结核 (PTB) 是一种肺结核.

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科学领域:

  • 遗传学 是一个遗传学.
  • 免疫学 免疫学 免疫学
  • 传染性疾病 传染性疾病

背景情况:

  • 肺结核 (PTB) 构成了全球严重的健康威胁.
  • 了解对PTB的遗传易感性对于有效控制至关重要.
  • 氧化合成酶2 (NOS2) 基因是影响PTB风险的潜在候选者.

研究的目的:

  • 调查五种特定的NOS2基因多态 (rs7215373,rs2297518,rs2274894,rs1800482和rs9282799) 与发展PTB的风险之间的关联.
  • 评估这些NOS2多态在调节宿主免疫反应对Mycobacterium结核病的作用.

主要方法:

  • 一项涉及150名PTB患者和150名健康对照者的病例控制研究.
  • 使用放大耐火突变系统-聚合酶链反应 (ARMS-PCR) 进行NOS2多态的基因定型.
  • 统计分析包括后勤回归和哈迪-韦恩伯格平衡测试,以评估遗传关联.

主要成果:

  • 多态体 rs7215373 和 rs2274894 没有与 PTB 风险显著相关.
  • rs2297518多态性与PTB风险降低有关 (基模型,p=0.041).
  • rs1800482多态性表明在多个模型中降低了风险 (p≤0.043).
  • 相反,rs9282799多态性与多个模型中PTB风险增加显著相关 (p≤0.012).

结论:

  • 特定的NOS2基因多态性 (rs2297518,rs1800482,rs9282799) 与发展PTB的不同风险有关.
  • 这些发现表明NOS2多态可能会影响对Mycobacterium tuberculosis的免疫反应.
  • 需要进行进一步的研究,以探索这些多形态的机制和潜力,以作为针对性预防策略的PTB生物标志物.