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注意缺陷多动障碍的连锁分析

Linkage analysis of attention deficit hyperactivity disorder.

作者信息

Faraone Stephen V, Doyle Alysa E, Lasky-Su Jessica, Sklar Pamela B, D'Angelo Eugene, Gonzalez-Heydrich Joseph, Kratochvil Christopher, Mick Eric, Klein Kristy, Rezac Amy J, Biederman Joseph

机构信息

The Genetics Research Program and Department of Psychiatry, SUNY Upstate Medical University, Syracuse, New York 13210, USA.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1387-91. doi: 10.1002/ajmg.b.30631.

Abstract

Results of behavioral genetic and molecular genetic studies have converged to suggest that both genes contribute to the development of ADHD. Although prior linkage studies have produced intriguing results, their results have been inconsistent, with no clear pattern of results emerging across studies. We genotyped 5,980 SNPs across the genome in 1,187 individuals from families with children diagnosed with ADHD. We then performed two nonparametric linkage analyses on ADHD families: (1) an affected sibling pair linkage analysis on 217 families with 601 siblings diagnosed with ADHD and (2) a variance components linkage analysis using the number of ADHD symptoms as the phenotype on 260 families with 1,100 phenotyped siblings. The affection status linkage analysis had a maximum LOD score of 1.85 on chromosome 8 at 54.2 cM. The maximum LOD score in the variance components linkage analysis was 0.8 on chromosome 8 at 93.4 cM. The absence of regions of significant or suggestive linkage in these data suggest that there are no genes of large effect contributing to the ADHD phenotype.

摘要

行为遗传学和分子遗传学研究结果趋于一致,表明这两种基因都对注意力缺陷多动障碍(ADHD)的发展有影响。尽管先前的连锁研究产生了有趣的结果,但结果并不一致,不同研究之间没有出现清晰的结果模式。我们对1187名来自有被诊断患有ADHD儿童的家庭的个体,进行了全基因组5980个单核苷酸多态性(SNP)的基因分型。然后我们对ADHD家庭进行了两项非参数连锁分析:(1)对217个家庭中601名被诊断患有ADHD的兄弟姐妹进行受累同胞对连锁分析;(2)以ADHD症状数量为表型,对260个家庭中1100名有表型的兄弟姐妹进行方差成分连锁分析。受累状态连锁分析在8号染色体54.2厘摩(cM)处的最大对数优势(LOD)得分为1.85。方差成分连锁分析在8号染色体93.4 cM处的最大LOD得分为0.8。这些数据中缺乏显著或提示性连锁区域,表明没有对ADHD表型有重大影响的基因。

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