对基本高血压的人类基因位点的全基因组映射
Mark Caulfield1, Patricia Munroe, Janine Pembroke
1Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London, Queen Mary's School of Medicine, London, UK. m.j.caulfield@qmul.ac.uk
Lancet (London, England)
|June 27, 2003
概括
基本高血压的遗传分析确定了6q染色体上的一个关键位置,表明一些基因有助于这种常见的心血管疾病. 进一步的研究可能会使用定位克隆来发现这些高血压易感基因.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 人体生理学 人体生理学
背景情况:
- 基本高血压对全球心血管疾病做出了重大贡献.
- 确定高血压的遗传因素可以揭示新的病理生理机制和治疗点.
- 医学研究理事会英国高血压遗传学 (BRIGHT) 研究旨在发现易患基本高血压的基因.
研究的目的:
- 进行全基因组扫描,以确定对基本高血压的易感基因.
- 为了分析导致高血压的遗传因素,在大量的欧洲白人人口中.
主要方法:
- 2010年出现的表型影响来自1599个高血压家庭的兄弟姐妹对.
- 进行了10 centimorgan全基因组扫描.
- 分析了使用非参数链接的基因型数据,并计算了lod分数以评估链接支持.
主要成果:
- 鉴定了6q染色体上的一个主要链接位置,具有全基因组意义 (lod分数3.21,p=0.042).
- 三个额外的位点 (2q,5q,9q) 在位点计数分析中显示出全基因组显著性 (p=0.017).
- 这些发现表明基本高血压的寡原性基础.
结论:
- 人体本质性高血压似乎具有寡原性成分,可能受到额外的轻微遗传影响的影响.
- 几种已识别的基因可能容易接受定位克隆策略,以便进一步研究.
- 这项研究提供了关于基本高血压的遗传结构的见解.
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