PopGen: Population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
PopGen: Population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
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DOI：
10.1159/000090694
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发表时间：
2006-01-01
期刊：
影响因子：
--
通讯作者：
Schreiber, S
中科院分区：
文献类型：
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作者：
Krawczak, M;Nikolaus, S;Schreiber, S
目的：用于绘制复杂人类疾病基因图谱的患者样本不太可能代表整个人群的表型谱。另一方面，大多数正在进行的前瞻性研究可能规模太小，无法评估多基因疾病标志物。设计：通过全面查明地理有限区域内的患者，可以有效地准确估计特定人群的基因型风险。 PopGen 项目将德国最北部地区作为此类追求的目标区域。结果：PopGen 目前与众多临床合作伙伴密切合作开展招募、采样和处理活动，涵盖心血管、神经精神和环境疾病。结论：PopGen 已成功成为国际认可的大型遗传流行病学项目。版权所有 (C) 2006 S. Karger AG，巴塞尔。
Objective: Patient samples used for mapping complex human disease genes are unlikely to be representative of the phenotype spectrum of the respective population as a whole. On the other hand, most ongoing prospective studies are probably too small for evaluating polygenic disease markers. Design: Precise estimates of population-specific genotypic risks can be obtained efficiently through the complete ascertainment of patients in a geographically confined area. The PopGen project uses the most northern part of Germany as a target region for such a pursuit. Results: PopGen currently pursues recruitment, sampling and processing activities in close collaboration with a multitude of clinical partners, covering cardiovascular, neuropsychiatric and environmental diseases. Conclusion: PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition. Copyright (C) 2006 S. Karger AG, Basel.