Sonuga-Barke Edmund J S, Lasky-Su Jessica, Neale Benjamin M, Oades Robert, Chen Wai, Franke Barbara, Buitelaar Jan, Banaschewski Tobias, Ebstein Richard, Gill Michael, Anney Richard, Miranda Ana, Mulas Fernando, Roeyers Herbert, Rothenberger Aribert, Sergeant Joseph, Steinhausen Hans Christoph, Thompson Margaret, Asherson Philip, Faraone Stephen V
Developmental Brain-Behaviour Unit, University of Southampton, Southampton, UK.
Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1359-68. doi: 10.1002/ajmg.b.30860.
Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Childhood Symptoms interview. Maternal criticism and warmth (i.e., EE) were coded by independent observers on comments made during the interview. No G x E interactions reached genome-wide significance. Nominal effects were found both with and without genetic main effects. For those with genetic main effects 36 uncorrected interaction P-values were <10(-5) implicating both novel genes as well as some previously supported candidates. These were found equally often for all of the interactions being investigated. The observed interactions in SLC1A1 and NRG3 SNPs represent reasonable candidate genes for further investigation given their previous association with several psychiatric illnesses. We find evidence for the role of EE in moderating the effects of genes on ADHD severity and comorbid conduct disorder, implicating both novel and established candidates. These findings need replicating in larger independent samples.
先前关于注意缺陷多动障碍(ADHD)的基因与环境(G×E)相互作用的研究主要集中在已知的ADHD风险基因以及环境介导的生物学风险上。在此,我们在全基因组关联扫描的背景下进行G×E分析,以识别新的基因,这些基因对ADHD症状和共病品行障碍的影响会受到母亲高表达情绪(EE)的调节。对958个ADHD先证者-父母三联体进行了60万个单核苷酸多态性(SNP)的基因分型。在应用数据清理程序后,我们在909个家庭三联体中检测了429,981个常染色体SNP。使用儿童症状的父母报告访谈来测量ADHD症状严重程度和共病品行障碍。母亲的批评和温暖程度(即EE)由独立观察者根据访谈中的评论进行编码。没有G×E相互作用达到全基因组显著性。在有和没有基因主效应的情况下都发现了名义效应。对于有基因主效应的那些人,36个未校正的相互作用P值<10^(-5),这既涉及新基因,也涉及一些先前得到支持的候选基因。在所有被研究的相互作用中,这些情况出现的频率相同。鉴于SLC1A1和NRG3 SNP先前与几种精神疾病有关联,观察到的它们之间的相互作用代表了值得进一步研究的合理候选基因。我们发现有证据表明EE在调节基因对ADHD严重程度和共病品行障碍的影响方面发挥作用,涉及新的和已确定的候选基因。这些发现需要在更大的独立样本中进行重复验证。