Tests of association between quantitative traits and haplotypes in a reduced-dimensional space
Tests of association between quantitative traits and haplotypes in a reduced-dimensional space
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DOI：
10.1111/j.1529-8817.2005.00216.x
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发表时间：
2005-11-01
影响因子：
1.9
通讯作者：
Zhang, SL
中科院分区：
文献类型：
--
作者：
Sha, QY;Dong, JP;Zhang, SL
候选基因关联测试目前使用多个基因内SNP同时进行，通过测试SNP单倍型或基因型效应在多因素疾病或性状。单倍型的数量随着分型SNP数量的增加而急剧增加。因此，大量的单倍型将引入大自由度的单倍型为基础的测试，从而限制了测试的力量，在本研究中，我们提出使用主成分方法来降低维度，然后构建关联测试在低维空间使用群体为基础的样本来测试单倍型和数量性状之间的关联。所提出的方法允许模糊的单倍型。我们使用模拟研究，以评估I型错误率的测试，并比较的权力，建议的测试与没有降维的测试，并通过合并罕见的单倍型降维的测试。仿真结果表明，所提出的测试具有正确的I类错误率，并且在我们的仿真研究中考虑的大多数情况下比其他测试更强大。
Candidate gene association tests are currently performed using several intragenic SNPs simultaneously, by testing SNP haplotype or genotype effects in multifactorial diseases or traits. The number of haplotypes drastically increases with an increase in the number of typed SNPs. As a result, large numbers of haplotypes will introduce large degrees of freedom in haplotype-based tests, and thus limit the power of the tests.In this study we propose using the principal component method to reduce the dimension, and then construct association tests on the lower-dimensional space to test the association between haplotypes and a quantitative trait using population-based samples. The proposed method allows ambiguous haplotypes. We use simulation studies to evaluate the type I error rate of the tests, and compare the power of the proposed tests with that of the tests without dimension reduction, and the tests with dimension reduction by merging rare haplotypes. The simulation results show that the proposed tests have correct type I error rates and are more powerful than other tests in most cases considered in our simulation studies.