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对155对德国同胞双胞胎进行的注意力缺陷多动障碍全基因组扫描。

A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs.

作者信息

Hebebrand J, Dempfle A, Saar K, Thiele H, Herpertz-Dahlmann B, Linder M, Kiefl H, Remschmidt H, Hemminger U, Warnke A, Knölker U, Heiser P, Friedel S, Hinney A, Schäfer H, Nürnberg P, Konrad K

机构信息

Department of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.

出版信息

Mol Psychiatry. 2006 Feb;11(2):196-205. doi: 10.1038/sj.mp.4001761.

Abstract

Three groups have previously performed genome scans in attention-deficit/hyperactivity disorder (ADHD); linkage to chromosome 5p13 was detected in all of the respective studies. In the current study, we performed a whole-genome scan with 102 German families with two or more offspring who currently fulfilled the diagnostic criteria for ADHD. Including subsequent fine mapping on chromosome 5p, a total of 523 markers were genotyped. The highest nonparametric multipoint LOD score of 2.59 (empirical genome-wide significance 0.1) was obtained for chromosome 5p at 17 cM (according to the Marshfield map). Subsequent analyses revealed (a) a higher LOD score of 3.37 at 39 cM for a quantitative severity score based on symptoms of inattention than for hyperactivity/impulsivity (LOD score of 1.11 at 59 cM), and (b) an HLOD of 4.75 (empirical genome-wide significance 0.001) based on a parametric model assuming dominant inheritance. The locus of the solute carrier 6A3 (SLC6A3; dopamine transporter 1; DAT1) localizes to 5p15.33; the gene has repeatedly been implicated in the etiology of ADHD. However, in our sample the DAT1 VNTR did not show association with ADHD. We additionally identified nominal evidence for linkage to chromosomes 6q, 7p, 9q, 11 q, 12q and 17p, which had also been identified in previous scans. Despite differences in ethnicity, ascertainment and phenotyping schemes, linkage results in ADHD appear remarkably consistent.

摘要

此前有三个研究小组对注意力缺陷多动障碍(ADHD)进行了全基因组扫描;在所有相应研究中均检测到与5号染色体p13区域存在连锁关系。在本研究中,我们对102个德国家庭进行了全基因组扫描,这些家庭中有两个或更多后代目前符合ADHD的诊断标准。包括随后在5号染色体p区域进行的精细定位,共对523个标记进行了基因分型。在5号染色体17厘摩处(根据马什菲尔德图谱)获得了最高的非参数多点LOD分数2.59(全基因组经验性显著性为0.1)。随后的分析显示:(a)基于注意力不集中症状的定量严重程度评分在39厘摩处的LOD分数为3.37,高于多动/冲动症状的LOD分数(59厘摩处为1.11);(b)基于假设显性遗传的参数模型,HLOD为4.75(全基因组经验性显著性为0.001)。溶质载体6A3(SLC6A3;多巴胺转运体1;DAT1)基因定位于5p15.33;该基因多次被认为与ADHD的病因有关。然而,在我们样本中,DAT1可变数目串联重复序列(VNTR)与ADHD未显示出关联。我们还发现了与6号染色体q区域、7号染色体p区域、9号染色体q区域、11号染色体q区域、12号染色体q区域和17号染色体p区域连锁的名义证据,这些区域在之前的扫描中也已被发现。尽管在种族、样本确定和表型分析方案上存在差异,但ADHD的连锁研究结果却非常一致。

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