Genome-wide association study for attention deficit/ hyperactivity disorder

全基因组关联研究（GWAS）最近导致了不同复杂疾病的各种多基因的鉴定。注意力缺陷多动障碍（ADHD）的遗传率很高（约0.8）。我们之前已经对ADHD进行了全基因组连锁扫描。对于染色体5 p上的峰区域，我们发现与多巴胺转运蛋白基因的连锁和关联。在这里，我们的目标是通过系统的GWAS方法在808名年轻患者（其中450人申请资助）和2，144名流行病学对照（KORA n= 1，644，POPGEN n=500）中确定与ADHD相关的其他基因。GWAS确定的50个最佳单核苷酸多态性（SNP）和20个最佳拷贝数多态性（CNP）将在合作伙伴提供的2，200个额外的独立ADHD三人组和600名成人ADHD患者中进行确认。随后，我们将通过计算机分析验证的SNP/CNP，例如单倍型结构和功能意义。

Genome wide association studies (GWAS) recently led to the identification of various polygenes for different complex disorders. Heritability for attention-deficit/hyperactivity disorder (ADHD) is high (approximately 0.8). We had previously performed genome wide linkage scans for ADHD. For the peak region on chromosome 5p we found linkage and association to the dopamine transporter gene. Here we aim to identify additional genes relevant for ADHD by a systematic GWAS approach in 808 young patients (here we apply for funding of 450 of these) and 2,144 epidemiological controls (n=1,644 from KORA and n=500 from POPGEN). The 50 best single nucleotide polymorphisms (SNPs) identified by the GWAS and the 20 best copy number polymorphisms (CNPs) will be chosen for confirmation in 2,200 additional independent ADHD trios, provided by co-operation partners and in 600 adult patients with ADHD. Subsequently, we will analyze the validated SNPs/CNPs in silico e.g. for haplotype structure and functional implications.