Characterization of mitochondrial haplogroups in a large population-based sample from the United States.
Characterization of mitochondrial haplogroups in a large population-based sample from the United States.
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DOI：
10.1007/s00439-014-1421-9
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发表时间：
2014-07
期刊：
影响因子：
5.3
通讯作者：
Crawford, Dana C.
中科院分区：
文献类型：
--
作者：
Mitchell, Sabrina L.;Goodloe, Robert;Brown-Gentry, Kristin;Pendergrass, Sarah A.;Murdock, Deborah G.;Crawford, Dana C.
线粒体DNA单倍型群在法医学、分子人类学和人类遗传学研究中具有重要价值。在这项研究中，我们开发了一个自定义面板的61个mtDNA标记的高通量分类的欧洲，非洲和美洲原住民/亚洲线粒体单倍群谱系。使用这些mtDNA标记，我们构建了一个线粒体单倍型群分类树，并对来自国家健康和营养调查（NHANES）的18，832名参与者进行了分类。据我们所知，这是迄今为止最大的一项研究，描述了来自美国的基于人群的样本中的线粒体单倍型群，也是第一项研究，描述了自我认定的墨西哥裔美国人与其他血统的西班牙裔美国人的线粒体单倍型群分布。我们观察到明显的差异，母亲的遗传祖先的分布与建议的混合模型，这些亚群一致，强调了美国西班牙裔人口的遗传异质性。NHANES中其他自我确定的种族/民族群体的线粒体单倍型群分布与以前的研究基本相当。线粒体单倍型群分类与非西班牙裔白人自我认定的种族/民族（SIRE）高度一致。（94.8%），但在包括非西班牙裔黑人在内的混合人群中显著较低（88.3%）墨西哥裔美国人（81.8%）和其他西班牙裔（61.6%），表明SIRE不能准确反映母体遗传祖先，特别是在混合比例较大的人群中。因此，在进行遗传关联研究时，考虑SIRE和遗传祖先之间的不一致是很重要的。我们所产生的线粒体单倍群数据，加上NHANES中的流行病学变量，是未来研究mtDNA变异对人类健康和疾病贡献的宝贵资源。
Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Using these mtDNA markers we constructed a mitochondrial haplogroup classification tree and classified 18,832 participants from the National Health and Nutrition Examination Surveys (NHANES). To our knowledge, this is the largest study to date characterizing mitochondrial haplogroups in a population-based sample from the United States, and the first study characterizing mitochondrial haplogroup distributions in self-identified Mexican Americans separately from Hispanic Americans of other descent. We observed clear differences in the distribution of maternal genetic ancestry consistent with proposed admixture models for these subpopulations, underscoring the genetic heterogeneity of the United States Hispanic population. The mitochondrial haplogroup distributions in the other self-identified racial/ethnic groups within NHANES were largely comparable to previous studies. Mitochondrial haplogroup classification was highly concordant with self-identified race/ethnicity (SIRE) in non-Hispanic whites (94.8%), but was considerably lower in admixed populations including non-Hispanic blacks (88.3%), Mexican Americans (81.8%), and other Hispanics (61.6%), suggesting SIRE does not accurately reflect maternal genetic ancestry, particularly in populations with greater proportions of admixture. Thus, it is important to consider inconsistencies between SIRE and genetic ancestry when performing genetic association studies. The mitochondrial haplogroup data that we have generated, coupled with the epidemiologic variables in NHANES, is a valuable resource for future studies investigating the contribution of mtDNA variation to human health and disease.
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DOI：
10.1098/rstb.2003.1394
发表时间：
2004-02-29
影响因子：
6.3
作者：
Forster, P
通讯作者：
Forster, P
影响因子：
2.2
作者：
Allard, MW;Polanskey, D;Budowle, B
通讯作者：
Budowle, B
DOI：
10.1098/rstb.2012.0267
发表时间：
2013-07-19
期刊：
Philosophical transactions of the Royal Society of London. Series B, Biological sciences
影响因子：
--
作者：
Wallace DC
通讯作者：
Wallace DC
影响因子：
--
作者：
Kenney, M. Cristina;Hertzog, Dieter;Udar, Nitin
通讯作者：
Udar, Nitin
影响因子：
9.8
作者：
van der Walt, JM;Nicodemus, KK;Vance, JM
通讯作者：
Vance, JM