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	Jacob, C., 201222664926
Citation	Jacob C., Nguyen T. T., Weissflog L., Herrmann M., Liedel S., Zamzow K., Jans T., Renner T., Reichert S., Gross-Lesch S., Lesch K. P. and Reif A. (2012) "PPP2R2C as a candidate gene of a temperament and character trait-based endophenotype of ADHD." Atten Defic Hyperact Disord, 4(3): 145-52.
Study Design	case-control and family-based
Study Type	Candidate-gene association study
Sample Size	513 cases and 536 controls; 170 nuclear families with 249 affected children
Predominant Ethnicity	Caucasian
Population	German
Gender	46% female of patients in the case-control sample, 52 % females controls; 190 males (76 %) and 59 females (24 %) in the family-based sample
Age Group	Children/Adolescents and Adults : mean age, 33.6 years; SD, 10.2 of patients in the case-control sample; mean age, 30.7 years; SD, 9.8 of controls; The mean age of the affected children in the family-based sample was 11.1 years (SD: 2.9 years).

Detail Info

Summary	A total of 513 in- and outpatients affected with adult ADHD and 536 controls as well as 170 nuclear families with 249 children affected with ADHD were genotyped for 35 SNPs, which tagged the promoter region, the 5' and 3' UTRs, and the exons of the PPP2R2C. Two independent samples provided evidence that the major G allele of rs16838844 increases risk toward ADHD. Allelic variations of PPP2R2C rs16838698 on the other hand might be associated with a variety of personality traits. There is evidence that allelic variation in PPP2R2C may be associated with a variety of personality traits and ADHD per se. Nevertheless, as all those conditions are comorbid, PPP2R2C might reflect a common underlying neurobiological risk factor.
Total Sample	A total of 513 in- and outpatients of German origin were recruited and examined with the structured clinical interview of DSM-IV axis-I disorders as previously reported. Control subjects consist of 536 healthy controls originating from the Lower Franconian area. Of them, 270 were blood donors not screened for psychiatric disorders; however, all participants were free of medication. Further 90 individuals were recruited and screened for the absence of psychiatric disorders. The third control group comprised 176 individuals. Furthermore, 249 children with childhood ADHD from 170 families were recruited and phenotypically characterized by a team of experienced psychiatrists in the outpatient unit of the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Wuerzburg according to the DSM-IV criteria.
Sample Collection	A total of 513 in- and outpatients of German origin, referred to the department of Psychiatry, University of Wuerzburg were recruited. Control subjects consist of 536 healthy controls originating from the Lower Franconian area. Further 90 individuals were recruited and screened for the absence of psychiatric disorders. The third control group comprised 176 individuals. Furthermore, 249 children with childhood ADHD from 170 families were recruited and phenotypically characterized by a team of experienced psychiatrists in the outpatient unit of the Department of Child and Adolescent Psychiatry and Psychotherapy, University of Wuerzburg. Families were included if they had one or more children affected with ADHD to perform family-based studies.
Diagnosis Description	Briefly, inclusion criteria were AADHD according to the diagnostic criteria of DSM-IV, onset before the age of 7 years via retrospective diagnosis, life-long persistence, and current diagnosis.Furthermore, 249 children with childhood ADHD (cADHD; 85.5 % C-Type, 13.7 % I-Type, and 0.8 % H-Type) from 170 families were recruited according to the DSM-IV criteria.
Technique	PCR amplification and genotyping
Analysis Method	For the case-control sample, regression models implemented in the R function glm() were performed to test and assess the genotype effect on a trait of interest. For the family data, we used family-based association test; to test for the association of the PPPC2R SNPs with ADHD affection as well as with further comorbid disorders with prevalence greater than 10 %. For both samples, haplotype blocks (pairwise D'< 0.52) were obtained by means of Haploview and the omnibus association test was performed using Famhap. We set the significance level to 0.05 and report nominal two-sided p values.
Result Description	Two independent samples provided evidence that the major G allele of rs16838844 increases risk toward ADHD. Allelic variations of PPP2R2C rs16838698 on the other hand might be associated with a variety of personality traits. There is evidence that allelic variation in PPP2R2C may be associated with a variety of personality traits and ADHD per se. Nevertheless, as all those conditions are comorbid, PPP2R2C might reflect a common underlying neurobiological risk factor.

SNPs reported by this study (count: 4)

SNP	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
rs11727760		A	P-value=0.8003, OR=1.0295% CI=(0.85-1.23) in the adult case-control sample; FBAT P-value=0.0105 in the families with ADHD children	It reached nominal significance, however not surviving corre...... It reached nominal significance, however not surviving correction for multiple testing in the children sample. More...	Significant
rs16838844		G	P-value=0.1271, OR=1.1595% CI=(0.96-1.37) in the adult case-control sample; FBAT P-value=0.0469 in the families with ADHD children	It reached nominal significance, however not surviving corre...... It reached nominal significance, however not surviving correction for multiple testing in the children sample; Furthermore, we observed a nominal p value of 0.032 for SNP rs16838844 in the adult sample when only combined-type cases were considered. More...	Significant
rs4689440		G	P-value=0.0464, OR=1.2395% CI=(1.00-1.51) in the adult case-control sample; FBAT P-value=0.2265 in the families with ADHD children	In the adult sample, rs4689440 showed nominally significant ...... In the adult sample, rs4689440 showed nominally significant association with disease. More...	Significant
rs6828090		C	P-value=0.8834, OR=1.0195% CI=(0.85-1.20) in the adult case-control sample; FBAT P-value=0.0362 in the families with ADHD children	It reached nominal significance, however not surviving corre...... It reached nominal significance, however not surviving correction for multiple testing in the children sample. More...	Significant

Genes reported by this study (count: 1)