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

Detail ...

Study Report

Basic Info

Reference	Weber, H.,201324292267
Citation	Weber H, Scholz CJ, Jacob CP, Heupel J, Kittel-Schneider S, Erhardt A, Hempel S, Schmidt B, Kiel T, Gessner A, Lesch KP, Reif A (2013) SPOCK3, a risk gene for adult ADHD and personality disorders. Eur Arch Psychiatry Clin Neurosci. doi: 10.1007/s00406-013-0476-2
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	624 patients and 536 controls
Predominant Ethnicity	Caucasian
Population	German
Gender	45% female in cases and 46% female in controls
Age Group	Adults : Mean (SD)(Year) = 40.2 (10.1) for patients and 35.2 (10.1) for controls

Detail Info

Summary	Attention-deficit/hyperactivity disorder (ADHD) is the most frequent psychiatric disorder in children, where it displays a global prevalence of 5 %. In up to 50 % of the cases, ADHD may persist into adulthood (aADHD), where it is often comorbid with personality disorders. Due to a potentially heritable nature of this comorbidity, we hypothesized that their genetic framework may contain common risk-modifying genes. SPOCK3, a poorly characterized, putatively Ca(2+)-binding extracellular heparan/chondroitin sulfate proteoglycan gene encoded by the human chromosomal region 4q32.3, was found to be associated with polymorphisms among the top ranks in a genome-wide association study (GWAS) on ADHD and a pooled GWAS on personality disorder (PD). We therefore genotyped 48 single nucleotide polymorphisms (SNPs) representative of the SPOCK3 gene region in 1,790 individuals (n aADHD = 624, n PD = 630, n controls = 536). In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction. Bioinformatics tools predicted a possible influence of rs1485318 on transcription factor binding, whereas the other candidate SNPs may have effects on alternative splicing. Our results suggest that SPOCK3 may modify the genetic risk for ADHD and PD; further studies are, however, needed to identify the underlying mechanisms.
Total Sample	The aADHD study sample has previously been described in greater detail; briefly, it comprises 624 in- and outpatients of German origin, which were recruited at the Department of Psychiatry, University of Wu¡§rzburg. The control sample consisted of 536 healthy subjects and was composed of blood donors, staff members and volunteers all originating from the Lower Franconia region.
Sample Collection	Attention-deficit/hyperactivity disorder (ADHD) is the most frequent psychiatric disorder in children, where it displays a global prevalence of 5 %. In up to 50 % of the cases, ADHD may persist into adulthood (aADHD), where it is often comorbid with personality disorders. Due to a potentially heritable nature of this comorbidity, we hypothesized that their genetic framework may contain common risk-modifying genes. SPOCK3, a poorly characterized, putatively Ca(2+)-binding extracellular heparan/chondroitin sulfate proteoglycan gene encoded by the human chromosomal region 4q32.3, was found to be associated with polymorphisms among the top ranks in a genome-wide association study (GWAS) on ADHD and a pooled GWAS on personality disorder (PD). We therefore genotyped 48 single nucleotide polymorphisms (SNPs) representative of the SPOCK3 gene region in 1,790 individuals (n aADHD = 624, n PD = 630, n controls = 536). In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction. Bioinformatics tools predicted a possible influence of rs1485318 on transcription factor binding, whereas the other candidate SNPs may have effects on alternative splicing. Our results suggest that SPOCK3 may modify the genetic risk for ADHD and PD; further studies are, however, needed to identify the underlying mechanisms.
Diagnosis Description	All patients completed a semi-structured interview on the basis of DSM-IV (Diagnostic and Statistical Manual for Mental Disorders) criteria, where age of onset under 7 years, lifelong persistence, current diagnosis and age of recruitment between 18 and 65 years were determined for diagnosis of aADHD. Additionally, information about comorbid affection with other psychiatric disorders was documented.
Technique	genotyping
Analysis Method	Statistical analysis of genotype data was performed with PLINK V1.07.
Result Description	In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction. Bioinformatics tools predicted a possible influence of rs1485318 on transcription factor binding, whereas the other candidate SNPs may have effects on alternative splicing. Our results suggest that SPOCK3 may modify the genetic risk for ADHD and PD; further studies are, however, needed to identify the underlying mechanisms.

SNPs reported by this study (count: 40)

SNP	Allele Change	Statistical Values	Author Comments	Result of Statistical Analysis
rs13128738	A/G	Allele P-value = 0.8, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs1427635	C/T	Allele P-value = 0.598, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs11722292	C/T	Allele P-value = 0.698, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7660050	T/C	Allele P-value = 0.466, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs6822214	T/A	Allele P-value = 0.842, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7683298	G/A	Allele P-value = 0.302, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs13117458	T/C	Allele P-value = 0.395, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7698061	T/G	Allele P-value = 0.909, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs13102367	A/T	Allele P-value = 0.334, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs1346376	T/C	Allele P-value = 0.75, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs11725742	C/A	Allele P-value = 0.906, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs13114933	A/G	Allele P-value = 0.211, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs1593770	T/C	Allele P-value = 0.15, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs6857340	A/G	Allele P-value = 0.704, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs1834833	A/G	Allele P-value = 0.815, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17702475	G/A	Allele P-value = 0.99, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7694278	A/C	Allele P-value = 0.242, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs1485318	T/C	Allele P-value = 0.001, corrected P-value = 0.062	Significant association was observed Significant association was observed	Significant
rs17053121	C/T	Allele P-value = 0.957, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs11943562	C/T	Allele P-value = 0.165, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs2318483	G/C	Allele P-value = 0.556, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs4602517	G/A	Allele P-value = 0.839, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7689440	T/C	Allele P-value = 0.039, corrected P-value = 1	Significant association was observed Significant association was observed	Significant
rs17052591	C/T	Allele P-value = 0.77, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17702109	A/G	Allele P-value = 0.402, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7440269	G/A	Allele P-value = 0.916, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs13113012	G/T	Allele P-value = 0.642, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17520441	C/T	Allele P-value = 0.665, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs6553415	C/T	Allele P-value = 0.378, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs10025945	A/C	Allele P-value = 0.987, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17052671	T/C	Allele P-value = 0.039, corrected P-value = 1	Significant association was observed Significant association was observed	Significant
rs17520763	C/T	Allele P-value = 0.315, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17598103	T/A	Allele P-value = 0.723, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs897511	C/A	Allele P-value = 0.033, corrected P-value = 1	Significant association was observed Significant association was observed	Significant
rs17052602	G/A	Allele P-value = 0.183, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs17696409	G/C	Allele P-value = 0.774, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs9637685	C/G	Allele P-value = 0.532, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs10018183	A/C	Allele P-value = 0.913, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs7660401	T/C	Allele P-value = 0.188, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant
rs897514	T/C	Allele P-value = 0.216, corrected P-value = 1	No significant association was observed No significant association was observed	Non-significant

Genes reported by this study (count: 1)