Correlation of population parameters leading to power differences in association studies with population stratification.
Correlation of population parameters leading to power differences in association studies with population stratification.
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DOI：
10.1111/j.1469-1809.2008.00465.x
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发表时间：
2008-11
影响因子：
1.9
通讯作者：
Jin L
中科院分区：
文献类型：
--
作者：
He Y;Jiang R;Fu W;Bergen AW;Swan GE;Jin L
在人群分层的情况下，统计检验测量效应量的能力对于基于人群的关联研究的设计和分析是一个重要问题。统计检验的比较表明，不同的统计方法的力量在不同的遗传情况下是不同的。然而，分层人口参数对统计功效的影响尚未在一般统计框架中得到理解，特别是相关人口参数的影响。为了详细研究这种影响，我们实施了一个遗传模型，用于分层样本的基于人群的关联研究，并评估了不同遗传情景对功效的影响。调查表明，疾病患病率和亚群之间的危险等位基因频率的相关性影响统计功效。在一个具有5个亚群体和中等群体分化（Fst=0.01）的模型中，相关性占功效差的85%以上。我们的研究结果还表明，候选基因座的遗传效应的估计是有偏的群体分歧。当亚群间的患病率差异和危险基因座的分歧较大时，有益等位基因可能被错误地描述为危险等位基因。
The power of statistical tests to measure effect sizes in the presence of population stratification is an important issue for the design and analysis of population-based association studies. Comparisons of statistical tests have shown that the power of different statistical approaches varies in different genetic scenarios. However, the impact of stratified population parameters on statistical power is not yet understood in a general statistical framework, particularly the impact of correlated population parameters. To investigate such impact in detail, we implemented a genetic model for population-based association studies with stratified samples and evaluated the impact on power with different genetic scenarios. The investigation shows that correlation between disease prevalence and risk allele frequency among subpopulations impacts statistical power. In a model with five subpopulations and moderate population divergence (Fst=0.01), the correlation accounts for more than 85% of power difference. Our results also show that the estimation of genetic effect for candidate loci is biased by population divergence. Beneficial alleles could be wrongly characterized as risk alleles when prevalence differences and divergences of risk loci are large among subpopulations.
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影响因子：
9.8
作者：
Bersaglieri, T;Sabeti, PC;Hirschhorn, JN
通讯作者：
Hirschhorn, JN
影响因子：
30.8
作者：
Helgason, A;Yngvadóttir, B;Stefánsson, K
通讯作者：
Stefánsson, K
DOI：
10.1073/pnas.88.3.839
发表时间：
1991-02-01
影响因子：
11.1
作者：
BOWCOCK, AM;KIDD, JR;CAVALLISFORZA, LL
通讯作者：
CAVALLISFORZA, LL
影响因子：
9.8
作者：
Pritchard, JK;Rosenberg, NA
通讯作者：
Rosenberg, NA
影响因子：
30.8
作者：
Freedman, ML;Reich, D;Altshuler, D
通讯作者：
Altshuler, D