Porjesz Bernice, Begleiter Henri, Wang Kongming, Almasy Laura, Chorlian David B, Stimus Arthur T, Kuperman Samuel, O'Connor Sean J, Rohrbaugh John, Bauer Lance O, Edenberg Howard J, Goate Alison, Rice John P, Reich Theodore
Department of Psychiatry, State University of New York, Health Science Center at Brooklyn, Box 1203, HSCB, 450 Clarkson Avenue, Brooklyn, NY 11203-2098, USA.
Biol Psychol. 2002 Oct;61(1-2):229-48. doi: 10.1016/s0301-0511(02)00060-1.
Linkage analyses of highly heritable electrophysiological phenotypes (EEG, ERP) that can potentially identify individuals at risk for alcoholism were performed on a large sample of families with a high density of alcohol dependence as part of the Collaborative Study on the Genetics of Alcoholism (COGA); these genetic findings are summarized. Quantitative trait loci (QTLs) were identified for several ERP characteristics (P300, N100, N400) and for the beta frequencies of the EEG where we report linkage and linkage disequilibrium at a GABA(A) receptor gene on chromosome 4. Genetic analyses of ERPs suggest that several regions of the human genome contain genetic loci related to the generation of N100, N400 and P300, which are possible candidate loci underlying the functional organization of human neuroelectric activity. The advent of genomics and proteomics and a fuller understanding of gene regulation, will open new horizons on the critical electrical events so essential for human brain function.
作为酒精中毒遗传学合作研究（COGA）的一部分，对大量酒精依赖程度高的家庭样本进行了高遗传性电生理表型（脑电图、事件相关电位）的连锁分析，这些表型可能用于识别酗酒风险个体；对这些遗传研究结果进行了总结。确定了几个事件相关电位特征（P300、N100、N400）以及脑电图β频率的数量性状基因座（QTL），我们报告了4号染色体上一个γ-氨基丁酸A（GABA(A)）受体基因的连锁和连锁不平衡情况。事件相关电位的遗传分析表明，人类基因组的几个区域包含与N100、N400和P300产生相关的基因座，这些可能是人类神经电活动功能组织的潜在候选基因座。基因组学和蛋白质组学的出现以及对基因调控的更全面理解，将为对人类大脑功能至关重要的关键电活动开辟新的视野。
