She Dewei, Zhang Hong, Li Zhaohai
Department of Statistics, The George Washington University, 2140 Pennsylvania Avenue N.W., Washington, DC 20052, USA.
Ann Hum Genet. 2009 Jul;73(Pt 4):449-55. doi: 10.1111/j.1469-1809.2009.00528.x. Epub 2009 Jun 1.
Genetic data collected during the second phase of the Third National Health and Nutrition Examination Survey (NHANES III) enable us to investigate the association of a wide variety of health factors with regard to genetic variation. The classic question when looking into the genetic variations in a population is whether the population is in the state of Hardy-Weinberg Equilibrium (HWE). Our objective was to develop test procedures using family data from complex surveys such as NHANES III. We developed six Pearson chi(2) based tests for a diallelic locus of autosomal genes. The finite sample properties of the proposed test procedures were evaluated via Monte Carlo simulation studies and the Rao-Scott first order corrected test was recommended. Test procedures were applied to three loci from NHANES III genetic databases, i.e., ADRB2, TGFB1, and VDR. HWE was shown to hold at 0.05 level for all three loci when only families with genotypic information available for two parents and for one or more children were used in the analysis.
在第三次全国健康与营养检查调查（NHANES III）的第二阶段收集的基因数据，使我们能够研究各种健康因素与基因变异之间的关联。在研究人群中的基因变异时，经典问题是该人群是否处于哈迪-温伯格平衡（HWE）状态。我们的目标是利用来自诸如NHANES III等复杂调查的家庭数据开发测试程序。我们针对常染色体基因的双等位基因座开发了六种基于Pearson卡方的测试。通过蒙特卡罗模拟研究评估了所提出测试程序的有限样本属性，并推荐了Rao-Scott一阶校正测试。测试程序应用于NHANES III基因数据库中的三个基因座，即ADRB2、TGFB1和VDR。当仅使用父母双方以及一个或多个孩子具有基因型信息的家庭进行分析时，所有三个基因座在0.05水平上均显示符合HWE。
