Use of diplotypes - matched haplotype pairs from homologous chromosomes - in gene-disease association studies.
Use of diplotypes - matched haplotype pairs from homologous chromosomes - in gene-disease association studies.
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DOI：
10.3969/j.issn.1002-0829.2014.03.009
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发表时间：
2014-06
期刊：
影响因子：
--
通讯作者：
Luo X
中科院分区：
文献类型：
--
作者：
Zuo L;Wang K;Luo X
等位基因、基因分型和单倍型(等位基因组合)已被广泛应用于基因-疾病关联研究。最近，使用二倍型(同源染色体上的单倍型对)进行关联研究已变得越来越普遍。本文回顾了四种类型的关联分析的基本原理，并讨论了基于双倍型的分析比其他类型的关联分析更强大的情况。基于单倍型的关联分析比基于等位基因的关联分析更强大，基于双倍型的关联分析比基于基因的分析更强大。在标记之间没有交互作用和满足Hardy-Weinberg平衡(HWE)标准的情况下，基于等位基因和基于单倍型的关联分析的样本量较大，自由度较小，使得它们分别比基于基因型和基于二倍型的关联分析更有效。然而，在某些情况下，基于双倍型的分析比基于单倍型的分析更强大。
Alleles, genotypes and haplotypes (combinations of alleles) have been widely used in gene-disease association studies. More recently, association studies using diplotypes (haplotype pairs on homologous chromosomes) have become increasingly common. This article reviews the rationale of the four types of association analyses and discusses the situations in which diplotype-based analyses are more powerful than the other types of association analyses. Haplotype-based association analyses are more powerful than allele-based association analyses, and diplotype-based association analyses are more powerful than genotype-based analyses. In circumstances where there are no interaction effects between markers and where the criteria for Hardy-Weinberg Equilibrium (HWE) are met, the larger sample size and smaller degrees of freedom of allele-based and haplotype-based association analyses make them more powerful than genotype-based and diplotype-based association analyses, respectively. However, under certain circumstances diplotype-based analyses are more powerful than haplotype-based analysis.