ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Study Report

Basic Info

Reference	Vegt R, 201019707245
Citation	Vegt R., Bertoli-Avella A. M., Tulen J. H., de Graaf B., Verkerk A. J., Vervoort J., Twigt C. M., Maat-Kievit A., van Tuijl R., van der Lijn M., Hengeveld M. W. and Oostra B. A. (2010) "Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder." Eur J Hum Genet, 18(2): 206-11.
Study Design	pedigree
Study Type	Genome-wide linkage study
Sample Size	24 family members
Predominant Ethnicity	Caucasian
Population	the Netherlands
Gender	10 female (41.7%) and 14 male
Age Group	>12 years

Detail Info

Summary	They describe the clinical findings in a Dutch family with eight patients suffering from ADHD, in whom five had at least one other psychiatric disorder. They performed a genome-wide (parametric and nonparametric) affected-only linkage analysis. Two genomic regions on chromosomes 7 and 14 showed an excess of allele sharing among the definitely affected members of the family with suggestive LOD scores (2.1 and 2.08). Nonparametric linkage analyses (NPL) yielded a maxNPL of 2.92 (P-value=0.001) for marker D7S502 and a maxNPL score of 2.56 (P-value=0.003) for marker D14S275. They confirmed that all patients share the same haplotype in each region of 7p15.1-q31.33 and 14q11.2-q22.3. Interestingly, both loci have been reported before in Dutch (affected sib pairs) and German (extended families) ADHD linkage studies. Hopefully, the genome-wide association studies in ADHD will help to highlight specific polymorphisms and genes within the broad areas detected by our, as well as other, linkage studies.
Total Sample	The family consisted of 37 persons in three generations, of which 24 participated in the study. In total, six individuals died before the start of this research. A total of five persons refused to participate and two did not fulfil our age inclusion criterion (>12 years).
Sample Collection	a Dutch family
Diagnosis Description	a semi-structured interview (MV), a self-report questionnaire to assess the presence of ADHD symptoms on the basis of DSM-IV criteria, combined with clinical assessment, school reports, medical and psychological reports. 8 out of 24 family members (33%) were diagnosed as ADHD 'definitely affected' (three had ADHD of the combined type, four had the inattentive type and one had the hyperactive/impulsive type). ADHD 'possibly affected' was diagnosed in four members (17%).
Technique	A genome-wide screen was carried out with 382 fluorescently labelled markers from the ABI PRISM MD-10 Linkage v. 2.5 Mapping Set
Analysis Method	parametric and nonparametric linkage analyses (NPL) were performed using Simwalk2 software; simulation analysis; haplotype analysis
Result Description	performed a GWLA in a relatively large Dutch family with eight ADHD patients and found two (replicated) loci showing suggestive evidence of linkage on chromosomes 7p and 14q.

Regions reported by this study (count: 2)

Region	Statistical Values	Author Comments	Result of Statistical Analysis
7p15.1-q31.33	LOD scores=2.1, a maxNPL of 2.92 (P=0.001) for marker D7S502	the loci shows suggestive evidence of linkage and has been r...... the loci shows suggestive evidence of linkage and has been reported before More...	Trend
14q11.2-22.3	LOD scores=2.08, a maxNPL score of 2.56 (P=0.003) for marker D14S275	the loci shows suggestive evidence of linkage and has been r...... the loci shows suggestive evidence of linkage and has been reported before More...	Trend