Pulker Hannah, Lareu María Victoria, Phillips Christopher, Carracedo Angel
Institute of Legal Medicine, University of Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2007 Jun;1(2):100-4. doi: 10.1016/j.fsigen.2007.02.009. Epub 2007 Mar 23.
Association studies using SNPs provides one of the best tools that we have at the moment for looking for genes involved in physical traits. However the studies should be carefully designed from the very beginning in all the steps of the procedure: pre-genotyping, genotyping and the mathematical analysis of the results. If the actual knowledge is correctly applied in the design of the study the probability of being successful in finding an association can be considerably increased. Improved statistical analysis techniques are helping in the robustness of the findings. The current consensus from the literature indicates that this would be a good time to investigate complex or quantitative traits via dense SNP genotyping, and a number of studies have been published, providing potential models. The state of the art of candidate genes for pigmentation, stature and facial morphology is described.
使用单核苷酸多态性（SNP）的关联研究提供了目前我们所拥有的用于寻找与身体特征相关基因的最佳工具之一。然而，从程序的所有步骤，即基因分型前、基因分型以及结果的数学分析的一开始，研究就应该经过精心设计。如果在研究设计中正确应用实际知识，找到关联的成功概率会显著提高。改进的统计分析技术有助于增强研究结果的稳健性。文献中的当前共识表明，现在是通过密集SNP基因分型研究复杂或定量性状的好时机，并且已经发表了许多研究，提供了潜在模型。本文描述了色素沉着、身高和面部形态的候选基因的现状。
