全基因组关联数据的等位基因关联研究可以揭示标记位置分配中的错误。
Allelic association studies of genome wide association data can reveal errors in marker position assignments.
作者信息
Curtis David
机构信息
Academic Centre for Psychiatry, Queen Mary's School of Medicine and Dentistry, London, UK.
出版信息
BMC Genet. 2007 Jun 8;8:30. doi: 10.1186/1471-2156-8-30.
BACKGROUND
Genome wide association (GWA) studies provide the opportunity to develop new kinds of analysis. Analysing pairs of markers from separate regions might lead to the detection of allelic association which might indicate an interaction between nearby genes.
METHODS
396,591 markers typed in 541 subjects were studied. 7.8*1010 pairs of markers were screened and those showing initial evidence for allelic association were subjected to more thorough investigation along with 10 flanking markers on either side.
RESULTS
No evidence was detected for interaction. However 6 markers appeared to have an incorrect map position according to NCBI Build 35. One of these was corrected in Build 36 and 2 were dropped. The remaining 3 were left with map positions inconsistent with their allelic association relationships.
DISCUSSION
Although no interaction effects were detected the method was successful in identifying markers with probably incorrect map positions.
CONCLUSION
The study of allelic association can supplement other methods for assigning markers to particular map positions. Analyses of this type may usefully be applied to data from future GWA studies.
背景
全基因组关联（GWA）研究为开展新型分析提供了契机。分析来自不同区域的标记对可能会发现等位基因关联，这可能表明附近基因之间存在相互作用。
方法
对541名受试者中分型的396,591个标记进行了研究。筛选了7.8×10¹⁰对标记，对那些显示出等位基因关联初步证据的标记以及两侧的10个侧翼标记进行了更深入的研究。
结果
未检测到相互作用的证据。然而，根据NCBI Build 35，有6个标记似乎具有错误的图谱位置。其中一个在Build 36中得到了修正，2个被舍弃。其余3个标记的图谱位置与其等位基因关联关系不一致。
讨论
尽管未检测到相互作用效应，但该方法成功地识别出了图谱位置可能错误的标记。
结论
等位基因关联研究可以补充其他将标记分配到特定图谱位置的方法。此类分析可能会有效地应用于未来GWA研究的数据。
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