Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database
Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database
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DOI：
10.1002/ajmg.b.20090
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发表时间：
2004-01-01
影响因子：
2.8
通讯作者：
Roos, JL
中科院分区：
文献类型：
--
作者：
Karayiorgou, M;Torrington, M;Roos, JL
创始群体为复杂性状的基因定位提供了巨大的希望，因为它们提供了较少的遗传和环境异质性和更大的谱系研究潜力。然而，并非所有创始人群体的价值都是一样的。阿非利卡人群体符合几个标准，使其成为绘制复杂特征的理想群体，包括由少数最初的创始人建立，这可能允许相对有限的一组突变，以及目前庞大的群体规模，这允许识别足够数量的病例。在这里，我们研究了在这个人群中进行家谱研究的潜力，并提出了初步结果，表明精确的家谱追踪多达17代是可行的。我们还研究了在南非诊断的精神分裂症病例和在其他异质人群（特别是美国）诊断的精神分裂症病例的临床相似性。我们发现，关于基本的样本描述符和疾病的主要症状，这两个群体是等效的。因此，我们对精神分裂症的基因研究结果很可能适用于其他人群。基于本文的研究结果、该群体的历史和当前规模，以及我们之前对阿非利卡人背景连锁不平衡（LD）程度的分析，我们得出结论，阿非利卡人群体可能是使用连锁和LD方法绘制精神分裂症基因图谱的合适创始人群体。(C) 2003 Wiley-Liss, Inc。
Founder populations hold tremendous promise for mapping genes for complex traits, as they offer less genetic and environmental heterogeneity and greater potential for genealogical research. Not all founder populations are equally valuable, however. The Afrikaner population meets several criteria that make it an ideal population for mapping complex traits, including founding by a small number of initial founders that likely allowed for a relatively restricted set of mutations and a large current population size that allows identification of a sufficient number of cases. Here, we examine the potential to conduct genealogical research in this population and present initial results indicating that accurate genealogical tracing for up to 17 generations is feasible. We also examine the clinical similarities of schizophrenia cases diagnosed in South Africa and those diagnosed in other, heterogeneous populations, specifically the US. We find that, with regard to basic sample descriptors and cardinal symptoms of disease, the two populations are equivalent. It is, therefore, likely that results from our genetic study of schizophrenia will be applicable to other populations. Based on the results presented here, the history and current size of the population, as well as our previous analysis addressing the extent of background linkage disequilibrium (LD) in the Afrikaners, we conclude that the Afrikaner population is likely an appropriate founder population to map genes for schizophrenia using both linkage and LD approaches. (C) 2003 Wiley-Liss, Inc.