Predicting human height by Victorian and genomic methods
Predicting human height by Victorian and genomic methods
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DOI：
10.1038/ejhg.2009.5
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发表时间：
2009-08-01
影响因子：
5.2
通讯作者：
Borodin, Pavel M.
中科院分区：
文献类型：
--
作者：
Aulchenko, Yurii S.;Struchalin, Maksim V.;Borodin, Pavel M.
在维多利亚时代，弗朗西斯·高尔顿爵士表明，“在处理身高从父母到孩子的传递时，父母双方的平均身高……是我们需要关心了解的全部信息”（1886）。高尔顿的研究成果发表 122 年后，54 个基因座被描述，显示出与人类身高相关的强有力的统计证据，为我们提供了预测人类身高的潜在基因组方法。在一项对 5748 人进行的基于人群的研究中，我们发现 54 个基因座基因组图谱解释了 4-6% 的性别和年龄调整身高差异，并且区分高/矮人的能力有限，如接受者操作特征曲线 (AUC) 下的面积所表征的。在一项针对 550 人的家庭研究中，父母双方都进行了身高测量，我们发现高尔顿中亲预测方法解释了 40% 的性别和年龄调整后的身高差异，并显示出很高的判别准确性。我们还探讨了基因组图谱应解释多少方差才能达到某些 AUC 值。对于身高等高度遗传性状，我们得出结论，在可获得亲本表型信息的应用中（例如医学），维多利亚时代的高尔顿方法在判别准确性和成本方面将长期保持无与伦比的地位。对于遗传性较差的性状，以及在无法获得亲本信息的情况下（例如，法医学），基因组方法可以提供替代方案，因为可以识别决定性状变异的基本比例的变异。欧洲人类遗传学杂志 (2009) 17, 1070-1075; doi：10.1038/ejhg.2009.5； 2009 年 2 月 18 日在线发布
In the Victorian era, Sir Francis Galton showed that 'when dealing with the transmission of stature from parents to children, the average height of the two parents, ... is all we need care to know about them' ( 1886). One hundred and twenty-two years after Galton's work was published, 54 loci showing strong statistical evidence for association to human height were described, providing us with potential genomic means of human height prediction. In a population-based study of 5748 people, we find that a 54-loci genomic profile explained 4-6% of the sex- and age-adjusted height variance, and had limited ability to discriminate tall/short people, as characterized by the area under the receiver-operating characteristic curve ( AUC). In a family-based study of 550 people, with both parents having height measurements, we find that the Galtonian mid-parental prediction method explained 40% of the sex- and age-adjusted height variance, and showed high discriminative accuracy. We have also explored how much variance a genomic profile should explain to reach certain AUC values. For highly heritable traits such as height, we conclude that in applications in which parental phenotypic information is available ( eg, medicine), the Victorian Galton's method will long stay unsurpassed, in terms of both discriminative accuracy and costs. For less heritable traits, and in situations in which parental information is not available ( eg, forensics), genomic methods may provide an alternative, given that the variants determining an essential proportion of the trait's variation can be identified. European Journal of Human Genetics ( 2009) 17, 1070-1075; doi:10.1038/ejhg.2009.5; published online 18 February 2009