The impact of genotyping error on family-based analysis of quantitative traits
The impact of genotyping error on family-based analysis of quantitative traits
复制标题
DOI：
10.1038/sj.ejhg.5200594
复制
发表时间：
2001-02-01
影响因子：
5.2
通讯作者：
Cardon, LR
中科院分区：
文献类型：
--
作者：
Abecasis, GR;Cherny, SS;Cardon, LR
基因分型中的错误会极大地影响使用受影响的同胞对检测连锁的能力，但尚不清楚此类错误对数量性状分析有何影响。在这里，我们使用蒙特卡洛模拟来检查基因分型误差对同胞对数量性状连锁和关联研究中的多点与两点分析、可变图谱密度、基因座效应大小和等位基因频率的影响。使用方差分量方法进行分析。我们将错误对数量性状分析的影响与受影响的同胞对设计的影响进行了对比。结果表明，基因分型错误对受影响同胞对的连锁研究的影响比对未选择同胞数量性状的研究更严重。在效应大小适中的情况下，5% 的基因分型错误消除了受影响对中与真实易感性位点连锁的所有支持证据，但可能只会导致随机对中 15% 的连锁信息丢失。多点分析不会比两点分析受到更大影响；对于中等错误率（
Errors in genotyping can substantially influence the power to detect linkage using affected sib-pairs, but it is not clear what effect such errors have on quantitative trait analyses. Here we use Monte Carlo simulation to examine the influence of genotyping error on multipoint vs two-point analysis, variable map density, locus effect size and allele frequency in quantitative trait linkage and association studies of sib-pairs. The analyses are conducted using variance components methods. We contrast the effects of error on quantitative trait analyses with those on the affected sib-pair design. The results indicate that genotyping error influences linkage studies of affected sib pairs more severely than studies of quantitative traits in unselected sibs. In situations of modest effect size, 5% genotyping error eliminates all supporting evidence for linkage to a true susceptibility locus in affected pairs, but may only result in a loss of 15% of linkage information in random pairs. Multipoint analysis does not suffer substantially more than two-point analysis; for moderate error rates (