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	Okamura N, 200717669576
Citation	Okamura N., Hashimoto K., Iyo M., Shimizu E., Dempfle A., Friedel S. and Reinscheid R. K. (2007) "Gender-specific association of a functional coding polymorphism in the Neuropeptide S receptor gene with panic disorder but not with schizophrenia or attention-deficit/hyperactivity disorder." Prog Neuropsychopharmacol Biol Psychiatry, 31(7): 1444-8.
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	101 patients from 58 families
Predominant Ethnicity	Caucasian
Population	Germany
Gender	72 males, 29 females
Age Group	Children/Adolescents

Detail Info

Summary	This study report that a coding polymorphism in the Neuropeptide S receptor (NPSR) is associated with panic disorder in male patients of Japanese ancestry. Besides, two unrelated groups of patients diagnosed with schizophrenia or attention-deficit/hyperactivity disorder (ADHD) showed no association of particular NPSR alleles with the disorders. These results provide evidence for a gender-specific effect of NPSR in the pathogenesis of panic disorder.
Total Sample	In total, 58 families with 101 children affected with ADHD were included
Sample Collection	All families were of German descent.
Diagnosis Description	In total, 58 families with 101 children affected with ADHD according to DSM-IV criteria (Association, 1994) and 116 parents were ascertained and phenotypically characterized by physicians at the outpatient unit of child and adolescent psychiatry at the University of Marburg. The ascertainment strategy and inclusion criteria have been described in detail previously (Hebebrand et al., 2006).
Technique	Genomic DNA was extracted from leucocytes isolated from patient blood samples. Samples were coded without any personal information. DNA was resuspended and diluted in 10 mM Tris, 1 mM EDTA, pH 8. A region of 471 bp around the polymorphic site was amplified by PCR. Products were separated on 2% agarose gels in Tris-EDTA-acetate buffer and visualized by ethidium bromide staining. Gel pictures were captured on a UVP GelDoc imaging system and scored by two independent observers. Genotyping was carried out blind to the diagnosis. Genotyping results were compared to the medical information of each sample and data were analyzed for potential correlations between clinical diagnosis and NPS receptor genotypes.
Analysis Method	For each study group separately, they tested whether genotype frequencies were in Hardy-Weinberg equilibrium (HWE) using an exact chi-square test. Genotype frequencies between cases and controls were compared by an exact Cochran-Armitage test for trend using StatXact 6 (Cytel Software Corp., Cambridge, MA). For the ADHD family sample, genotype data was tested for Mendelian inconsistencies using Pedcheck (O'Connell and Weeks, 1998). HWE was checked in parental genotypes. A test for transmission disequilibrium (family-based association analysis) was performed using a permutation approach as implemented in famhap (Knapp and Becker, 2003). Further statistical analysis was carried out using the SPSS software package (SPSS Inc., Chicago, IL).
Result Description	In the second part of the study, they examined whether a functional polymorphism in NPSR might be associated with ADHD. NPSR genotypes in the parental generation were not in HWE (P-value=0.015) with an excess of heterozygous and a deficit of both homozygous genotypes. The frequency of the T allele was 45% in the parental generation. Family-based association analysis revealed no significant transmission disequilibrium from parents to affected children. Heterozygous parents transmitted the A allele 61 times while the T allele was inherited 57 times (P-value=0.77, famhap), indicating that NPSR genotypes are not associated with ADHD in this German sample. Distribution of NPSR genotypes however differed significantly across the ethnic samples. Comparison of NPSR genotypes from the 116 available parents of the German ADHD family sample with those of Japanese controls revealed a significant difference in frequencies (P-value=0.003).

SNPs reported by this study (count: 1)

Genes reported by this study (count: 1)