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混合映射:从种族和族裔范式到人口历史

Admixture mapping: from paradigms of race and ethnicity to population history.

作者信息

Ali-Khan Sarah E, Daar Abdallah S

出版信息

Hugo J. 2010 Dec;4(1-4):23-34. doi: 10.1007/s11568-010-9145-y. Epub 2010 Sep 26.

Abstract

Admixture mapping is a whole genome association strategy that takes advantage of population history-or genetic ancestry-to map genes for complex diseases. However, because it uses racial/ethnic groupings to examine differential disease risk, admixture mapping raises ethical and social concerns. While there has been much theoretical commentary regarding the ethical and social implications of population-based genetic research, empirical data from stakeholders most closely involved with these studies is limited. One of the first admixture mapping studies carried out was a scan for Multiple Sclerosis (MS) risk factors in an African-American population. Applying qualitative research methods, we used this example to explore developing views, experiences and perceptions of the ethical and social implications of admixture mapping and other population-based research-their value, risks and benefits, and the future prospects of the field. Additionally, we sought to understand how social and ethical risks might be mitigated, and the benefits of this research optimized. We draw on in-depth, one-on-one interviews with leading population geneticists, genome scientists, bioethicists, and African-Americans with MS. Here we present our findings from this unique group of key informants and stakeholders.

摘要

混合映射是一种全基因组关联策略,它利用群体历史或基因血统来定位复杂疾病的基因。然而,由于它使用种族/族裔分组来研究疾病风险差异,混合映射引发了伦理和社会问题。虽然关于基于群体的基因研究的伦理和社会影响有很多理论评论,但来自与这些研究关系最密切的利益相关者的实证数据有限。最早进行的混合映射研究之一是对非裔美国人人群中的多发性硬化症(MS)风险因素进行扫描。应用定性研究方法,我们以这个例子来探讨对混合映射和其他基于群体的研究的伦理和社会影响的发展观点、经验和看法——它们的价值、风险和益处,以及该领域的未来前景。此外,我们试图了解如何减轻社会和伦理风险,以及如何优化这项研究的益处。我们借鉴了对顶尖群体遗传学家、基因组科学家、生物伦理学家以及患有MS的非裔美国人进行的深入一对一访谈。在此,我们展示来自这一独特的关键信息提供者和利益相关者群体的研究结果。

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本文引用的文献

2
Building the sequence map of the human pan-genome.
Nat Biotechnol. 2010 Jan;28(1):57-63. doi: 10.1038/nbt.1596. Epub 2009 Dec 7.
3
Let's celebrate human genetic diversity.
Nature. 2009 Oct 8;461(7265):726-8. doi: 10.1038/461726a.
4
Race and ancestry in biomedical research: exploring the challenges.
Genome Med. 2009 Jan 21;1(1):8. doi: 10.1186/gm8.
5
Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA.
Arch Neurol. 2009 Feb;66(2):226-33. doi: 10.1001/archneurol.2008.541.
6
Personal genomics. The touchy subject of 'race'.
Science. 2008 Nov 7;322(5903):839. doi: 10.1126/science.322.5903.839a.
7
Genome-wide association studies: implications for multiethnic samples.
Hum Mol Genet. 2008 Oct 15;17(R2):R151-5. doi: 10.1093/hmg/ddn263.
8
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.
Nat Genet. 2008 Oct;40(10):1175-84. doi: 10.1038/ng.226. Epub 2008 Sep 14.
9
MYH9 is associated with nondiabetic end-stage renal disease in African Americans.
Nat Genet. 2008 Oct;40(10):1185-92. doi: 10.1038/ng.232. Epub 2008 Sep 14.
10
A genome-wide analysis of admixture in Uyghurs and a high-density admixture map for disease-gene discovery.
Am J Hum Genet. 2008 Sep;83(3):322-36. doi: 10.1016/j.ajhg.2008.08.001. Epub 2008 Aug 28.

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