Rice John P, Saccone Scott F
Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Genet Epidemiol. 2005;29 Suppl 1:S96-S102. doi: 10.1002/gepi.20116.
Ten groups set out to study the genetics of alcoholism, using various measures of alcohol dependence such as Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria, and related endophenotypes such as the electrophysiological evaluation of event-related potentials. The groups used both genome-wide microsatellite and single-nucleotide polymorphism (SNP) genotyping data in families selected from the Collaborative Study on the Genetics of Alcoholism. The majority of investigators studied alcohol-related phenotypes and chose linkage rather than association analysis. The analysis of SNP data presented several challenges, including marker linkage disequilibrium issues and computational limitations. Many groups pursued novel techniques, both in dealing with the SNP data and the definition of phenotypes. While there was a limited amount of concordance among linkage findings, it was very instructive to see so many new strategies at work. Generally the SNP genotype data seemed to yield more information for multipoint linkage analysis than the microsatellite data, a finding that will benefit the genetic analysis of complex disease in the future. A novel linkage peak was detected using the SNP markers.
十个研究小组着手研究酒精中毒的遗传学,采用了各种酒精依赖测量方法,如《精神疾病诊断与统计手册》(DSM-IV)标准,以及相关的内表型,如事件相关电位的电生理评估。这些小组在从酒精中毒遗传学合作研究中选取的家庭中使用了全基因组微卫星和单核苷酸多态性(SNP)基因分型数据。大多数研究人员研究了与酒精相关的表型,并选择了连锁分析而非关联分析。SNP数据的分析带来了几个挑战,包括标记连锁不平衡问题和计算限制。许多小组在处理SNP数据和表型定义方面都采用了新技术。虽然连锁研究结果之间的一致性有限,但看到这么多新策略在起作用很有启发性。一般来说,SNP基因型数据似乎比微卫星数据能为多点连锁分析提供更多信息,这一发现将有利于未来复杂疾病的遗传分析。使用SNP标记检测到了一个新的连锁峰。