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	Genro JP, 200818802919
Citation	Genro J. P., Polanczyk G. V., Zeni C., Oliveira A. S., Roman T., Rohde L. A. and Hutz M. H. (2008) "A common haplotype at the dopamine transporter gene 5' region is associated with attention-deficit/hyperactivity disorder." Am J Med Genet B Neuropsychiatr Genet, 147B(8): 1568-75.
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	243 families comprising 186 parent proband trios and 57 parent-child duos
Predominant Ethnicity	Brazilian
Population	Brazil
Gender	male 82.6%
Age Group	Children/Adolescents : 10.3 (SD=3.1) years

Detail Info

Summary	In this study, they screened 16 polymorphisms across the DAT1 gene to understand LD structure in a Brazilian sample of families with ADHD probands and to verify if there were evidence for a biased transmission of alleles and haplotypes from parents to their 243 children with ADHD. In the DSM-IV combined subtype, they observed a preferential transmission of the haplotype A/C/C/ C/A derived from five SNPs(rs2550948, rs11564750, rs261759, rs2652511, rs2975223) in 5' region (P-value corrected=0.018) and no association with any allele/haplotype at the 3' region of the gene, including the 3' VNTR and the VNTR of intron 8.
Total Sample	Families of children with ADHD were recruited from the Child and Adolescent Psychiatric Division of the Hospital de Clinicas de Porto Alegre (HCPA). The sample included 243 families comprising 186 parent proband trios and 57 parent-child duos.
Sample Collection	European descent
Diagnosis Description	A consensus diagnosis of ADHD based on DSM-IV criteria was achieved through a three-stage process, described in detail previously [Roman et al., 2001].
Technique	Polymerase chain reaction (PCR) amplification and genotyping of SNPs rs2975226, rs2552511, rs2617596 and the 3'VNTR (rs28363170) were performed as described [Roman et al., 2001; Rubie et al., 2001]. Genotyping of rs11564750 and the intron 8 VNTR was carried out by PCR, details could be found in the original publication. All other SNPs were genotyped using the TaqMan SNP Genotyping Assay by demand (Real Time PCR, Applied Biosystems) according to the manufacturer's recommended protocol.
Analysis Method	The association between alleles, haplotypes and disease was performed using the transmission disequilibrium tests (TDT). For this analysis, the FBAT program V1.7.3 was employed.
Result Description	In the DSM-IV combined subtype, they observed a preferential transmission of the haplotype A/C/C/ C/A derived from five SNPs(rs2550948, rs11564750, rs261759, rs2652511, rs2975223) in 5' region (P-value corrected=0.018) and no association with any allele/haplotype at the 3' region of the gene, including the 3' VNTR and the VNTR of intron 8.

SNPs reported by this study (count: 14)

SNP	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
rs40184	A/G		P-value=0.878 for total sample; P-value=0.844 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs37020	G/T		P-value=0.937 for total sample; P-value=0.414 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs2981359	C/G		P-value=0.131 for total sample; P-value=0.248 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs2975226	A/T		P-value=0.248 for total sample; P-value=0.018 for combined sample	showed biased transmission for ADHD children in the DSM-IV c...... showed biased transmission for ADHD children in the DSM-IV combined subtype More...	Significant
rs27072	C/T		P-value=0.305 for total sample; P-value=0.563 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs27048	C/T		P-value=0.277 for total sample; P-value=0.388 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs2652511	C/T		P-value=0.153 for total sample; P-value=0.026 for combined sample	showed biased transmission for ADHD children in the DSM-IV c...... showed biased transmission for ADHD children in the DSM-IV combined subtype More...	Significant
rs2617596	C/G		P-value=0.254 for total sample; P-value=0.032 for combined sample	showed biased transmission for ADHD children in the DSM-IV c...... showed biased transmission for ADHD children in the DSM-IV combined subtype More...	Significant
rs8179029	A/G		P-value=0.922 for total sample; P-value=0.811 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs6347	A/G		P-value=0.86 for total sample; P-value=0.911 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs463379	C/G		P-value=0.347 for total sample; P-value=0.185 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs11564750	C/G		P-value=0.386 for total sample; P-value=0.715 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant
rs2550948	A/G		P-value=0.363 for total sample; P-value=0.013 for combined sample	showed biased transmission for ADHD children in the DSM-IV c...... showed biased transmission for ADHD children in the DSM-IV combined subtype More...	Significant
rs1048953	C/T		P-value=0.735 for total sample; P-value=0.522 for combined sample	no allele was significantly more transmitted than expected no allele was significantly more transmitted than expected	Non-significant

Other variant reported by this study (count: 2)

Variant Name	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
SLC6A3 intron8 VNTR	5/6 repeats		5 repeat P-value=0.489 for total sample, P-value=0.592 for c...... 5 repeat P-value=0.489 for total sample, P-value=0.592 for combined sample; 6 repeat P-value=0.614 for total sample; P-value=0.917 for combined sample More...	no allele was significantly more transmitted than expected	Non-significant
SLC6A3 3'-UTR VNTR	9/10 repeats		9 repeat P-value=0.867 for total sample, P-value=0.458 for c...... 9 repeat P-value=0.867 for total sample, P-value=0.458 for combined sample; 10 repeat P-value=0.873 for total sample; P-value=0.365 for combined sample More...	no allele was significantly more transmitted than expected	Non-significant

Genes reported by this study (count: 1)