Identification of population substructure among Jews using STR markers and dependence on reference populations included
Identification of population substructure among Jews using STR markers and dependence on reference populations included
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DOI：
10.1186/1471-2156-11-48
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发表时间：
2010-06-14
期刊：
影响因子：
2.9
通讯作者：
Gelernter, Joel
中科院分区：
文献类型：
--
作者：
Listman, Jennifer B.;Hasin, Deborah;Gelernter, Joel
背景：检测人群亚结构是健康行为与其他特征关联研究的关键问题。无论是群体固有的还是标记选择的人工制品，确定群体遗传史的某些方面作为亚结构的潜在来源都有助于设计未来的遗传研究。犹太人口有众所周知的迁徙历史，其中经常进行关联研究。结果：利用32个常染色体STR标记和程序结构，我们以北部和南部地理遗传成分(AJ北部73%，南部23%，NaJ北部33%，南部60%)的形式区分了德系犹太人(AJ，N=135)和非德系犹太人(NAJ，N=226)犹太人口。使用一个小的STR小组检测这些密切相关人群中亚结构的能力取决于在分析中包括代表主要大陆人群的额外样本。结论：尽管诸如Structure之类的聚类程序设计为在没有参考人口信息的情况下将祖先比例分配给个人，但当在没有代理父母群体的情况下分析犹太样本时，没有检测到犹太人中的亚结构。一般来说，对于具有给定祖父母出生国的样本，对北方、南部、非洲和亚洲簇的结构赋值与先前研究中的线粒体DNA和Y染色体数据以及迁徙和异族婚姻的历史记录相一致。
Background: Detecting population substructure is a critical issue for association studies of health behaviors and other traits. Whether inherent in the population or an artifact of marker choice, determining aspects of a population's genetic history as potential sources of substructure can aid in design of future genetic studies. Jewish populations, among which association studies are often conducted, have a known history of migrations. As a necessary step in understanding population structure to conduct valid association studies of health behaviors among Israeli Jews, we investigated genetic signatures of this history and quantified substructure to facilitate future investigations of these phenotypes in this population.Results: Using 32 autosomal STR markers and the program STRUCTURE, we differentiated between Ashkenazi (AJ, N = 135) and non-Ashkenazi (NAJ, N = 226) Jewish populations in the form of Northern and Southern geographic genetic components (AJ north 73%, south 23%, NAJ north 33%, south 60%). The ability to detect substructure within these closely related populations using a small STR panel was contingent on including additional samples representing major continental populations in the analyses.Conclusions: Although clustering programs such as STRUCTURE are designed to assign proportions of ancestry to individuals without reference population information, when Jewish samples were analyzed in the absence of proxy parental populations, substructure within Jews was not detected. Generally, for samples with a given grandparental country of birth, STRUCTURE assignment values to Northern, Southern, African and Asian clusters agreed with mitochondrial DNA and Y-chromosomal data from previous studies as well as historical records of migration and intermarriage.