The genetics of attention deficit/hyperactivity disorder in adults, a review.
The genetics of attention deficit/hyperactivity disorder in adults, a review.
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DOI：
10.1038/mp.2011.138
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发表时间：
2012-10
影响因子：
11
通讯作者：
Reif, A.
中科院分区：
文献类型：
--
作者：
Franke, B.;Faraone, S. V.;Asherson, P.;Buitelaar, J.;Bau, C. H. D.;Ramos-Quiroga, J. A.;Mick, E.;Grevet, E. H.;Johansson, S.;Haavik, J.;Lesch, K-P;Cormand, B.;Reif, A.
成人形式的注意力缺陷/多动障碍(AADHD)的患病率高达5%，是这种常见神经发育障碍最严重的长期后果。临床样本中的家庭研究表明，与儿童ADHD(CADHD)相比，aADHD的家庭易感性增加，而基于成人样本中自我评估症状的双胞胎研究显示，中等遗传度估计为30%-40%。然而，使用多种信息来源，临床诊断为aADHD和cADHD的遗传率非常相似。对ADHD样本的候选基因和全基因组分子遗传学研究的结果表明，一些与儿童ADHD有关的相同基因，尽管在某些情况下，不同的等位基因和不同的基因可能与成人和儿童的ADHD有关。连锁研究已经成功地确定了ADHD的基因座，并导致LPHN3和CDH13被确定为与整个生命周期的ADHD相关的新基因。此外，对罕见基因变异的研究已经确定了ADHD可能的致病突变。使用基于神经心理学和神经成像的内表型，以及下一代基因组分析和改进的统计和生物信息学分析方法，有望识别与疾病病因学有关的更多遗传变异。大型的国际合作为强有力的研究铺平了道路。在识别ADHD危险基因方面的进展可能为我们在临床上预测疾病进展和更好的治疗提供工具，并最终可能有助于防止ADHD持续到成年。
The adult form of attention deficit/hyperactivity disorder (aADHD) has a prevalence of up to 5% and is the most severe long-term outcome of this common neurodevelopmental disorder. Family studies in clinical samples suggest an increased familial liability for aADHD compared with childhood ADHD (cADHD), whereas twin studies based on self-rated symptoms in adult population samples show moderate heritability estimates of 30–40%. However, using multiple sources of information, the heritability of clinically diagnosed aADHD and cADHD is very similar. Results of candidate gene as well as genome-wide molecular genetic studies in aADHD samples implicate some of the same genes involved in ADHD in children, although in some cases different alleles and different genes may be responsible for adult versus childhood ADHD. Linkage studies have been successful in identifying loci for aADHD and led to the identification of LPHN3 and CDH13 as novel genes associated with ADHD across the lifespan. In addition, studies of rare genetic variants have identified probable causative mutations for aADHD. Use of endophenotypes based on neuropsychology and neuroimaging, as well as next-generation genome analysis and improved statistical and bioinformatic analysis methods hold the promise of identifying additional genetic variants involved in disease etiology. Large, international collaborations have paved the way for well-powered studies. Progress in identifying aADHD risk genes may provide us with tools for the prediction of disease progression in the clinic and better treatment, and ultimately may help to prevent persistence of ADHD into adulthood.
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影响因子：
17.7
作者：
Asherson, Philip;Brookes, Keeley;Faraone, Stephen V.
通讯作者：
Faraone, Stephen V.
影响因子：
9.8
作者：
Arcos-Burgos, M;Castellanos, FX;Muenke, M
通讯作者：
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影响因子：
11
作者：
Asherson, P.;Zhou, K.;Faraone, S. V.
通讯作者：
Faraone, S. V.
影响因子：
11
作者：
Baehne, C. G.;Ehlis, A-C;Fallgatter, A. J.
通讯作者：
Fallgatter, A. J.
影响因子：
11
作者：
Arcos-Burgos, M.;Jain, M.;Muenke, M.
通讯作者：
Muenke, M.