Holmans P, McGuffin P, Clayton D
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, U.K.
Genet Epidemiol. 1995;12(6):613-8. doi: 10.1002/gepi.1370120615.
In this paper, a genome search is performed on the GAW Problem 1 data, in an attempt to determine which, if any, of the marker loci are associated and/or linked with the disease. Since there was no clear indication from the data of the likely mode of inheritance, methods were used which did not require such assumptions to be made. A two-stage procedure was used to test for association. Firstly a standard unmatched case-control test was applied to all the loci. The family-based method of Self et al. [1991] was then applied to those loci which gave a positive result in the first stage. This procedure correctly detected loci 1 and 2, and that disease risk was increased for homozygote carriers of the disease allele at each locus, although a false positive result was also found. The affected sib pair method of Holmans [1993] was also applied to the data, although the sample contained far too few sib-pairs for such an analysis to be effective. This analysis failed to find any of the disease loci.
在本文中，对遗传分析研讨会（GAW）问题1的数据进行了基因组搜索，旨在确定哪些标记位点（如果有的话）与该疾病相关和/或连锁。由于数据中没有明确表明可能的遗传模式，因此使用了无需做出此类假设的方法。采用两阶段程序来检验关联性。首先，对所有位点应用标准的非匹配病例对照检验。然后将Self等人[1991年]基于家系的方法应用于在第一阶段得出阳性结果的那些位点。该程序正确地检测到了位点1和位点2，并且发现每个位点上疾病等位基因的纯合子携带者的疾病风险增加，不过也发现了一个假阳性结果。Holmans[1993年]的受累同胞对方法也应用于该数据，尽管样本中同胞对数量太少，以至于这种分析无法有效进行。该分析未能找到任何疾病位点。
