Division of Epidemiology and Biostatistics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada.
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S65. doi: 10.1186/1471-2156-6-S1-S65.
It is generally assumed that the detection of disease susceptibility genes via fine-mapping association study is facilitated by consideration of marker haplotypes. In this study, we compared the performance of genotype-based and haplotype-based association studies using the Collaborative Study of Genetics of Alcoholism dataset, on several chromosomal regions showing evidence for linkage with ALDX1. After correction for multiple testing, the most significant results were observed with the genotype-based analyses on two regions of chromosomes 2 and 7. Interestingly, the analyses results from this dataset showed that there was no advantage of the haplotype-based analyses over genotype-based (single-locus) analyses. However, caution should be taken when generalizing these results to other chromosomal regions or to other populations.
一般认为，通过精细映射关联研究检测疾病易感基因可以通过考虑标记单倍型来实现。在这项研究中，我们使用酒精中毒遗传学合作研究数据集比较了基于基因型和基于单倍型的关联研究的性能，该数据集在几个显示与 ALDX1 连锁的染色体区域显示出了证据。经过多次测试的校正后，在染色体 2 和 7 的两个区域上基于基因型的分析观察到了最显著的结果。有趣的是，该数据集的分析结果表明，基于单倍型的分析并没有优于基于基因型（单基因座）的分析。然而，在将这些结果推广到其他染色体区域或其他人群时应谨慎。
