人口分层和虚假的等位基关联
1Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, Oxford, UK. Ion.cardon@well.ox.ac.uk
Lancet (London, England)
|February 25, 2003
概括
使用单核酸多态 (SNP) 检测复杂疾病的遗传原因是具有挑战性的. 研究正在从以人口为基础的设计转向以家庭为基础的设计,以避免人口分层偏见,尽管要求增加.
科学领域:
- 遗传学 是一个遗传学.
- 人类疾病研究研究研究
- 生物统计学 生物统计学
背景情况:
- 在识别复杂疾病的遗传因素方面进行了重大投资.
- 单核酸多态 (SNP) 检测技术和全基因组SNP目录的快速发展.
- 在研究人类复杂疾病的遗传基础方面,SNP越来越多地被利用.
研究的目的:
- 审查在基因型-表型关联研究中检测和管理人口分层的证据和方法.
- 讨论在遗传关联分析中研究设计的演变.
- 为未来复杂疾病遗传学的研究提供建议.
主要方法:
- 对遗传关联研究中人口分层现有文献的综述.
- 讨论病例控制,队列和基于家庭的研究设计.
- 分析检测和纠正人口分层的方法.
主要成果:
- 基于人口的研究 (病例控制,队列) 是实用的,但容易导致人口分层,可能产生偏见的结果.
- 基于家庭的设计减轻了人口分层,但在基因型和数据采集方面存在挑战.
- 研究方法发生了显著的转变,转向以家庭为基础的协会研究.
结论:
- 人口分层仍然是复杂疾病遗传关联研究中的关键问题.
- 仔细考虑研究设计是必要的,以尽量减少偏见,并确保可靠的发现.
- 未来的研究应该专注于强大的方法,以检测和纠正人口分层.
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