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	Won H, 201121499268
Citation	Won H., Mah W., Kim E., Kim J. W., Hahm E. K., Kim M. H., Cho S., Kim J., Jang H., Cho S. C., Kim B. N., Shin M. S., Seo J., Jeong J., Choi S. Y., Kim D. and Kang C. (2011) "GIT1 is associated with ADHD in humans and ADHD-like behaviors in mice." Nat Med, 17(5): 566-72.
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	192 cases and 196 age-matched controls
Predominant Ethnicity	Mongoloid
Population	Korea
Gender	166 male and 26 female patients, 113 male 83 female controls
Age Group	Children/Adolescents : case: mean age=9.7, SD=2.5; control=9.8, SD=0.6

Detail Info

Summary	Here they report a previously unidentified association between G protein-coupled receptor kinase-interacting protein-1 (GIT1) and ADHD in humans. An intronic single-nucleotide polymorphism in GIT1, the minor allele of which causes reduced GIT1 expression, shows a strong association with ADHD susceptibility in humans. Git1-deficient mice show ADHD-like phenotypes, with traits including hyperactivity, enhanced electroencephalogram theta rhythms and impaired learning and memory. Hyperactivity in Git1(-/-) mice is reversed by amphetamine and methylphenidate, psychostimulants commonly used to treat ADHD. In addition, amphetamine normalizes enhanced theta rhythms and impaired memory. GIT1 deficiency in mice leads to decreases in ras-related C3 botulinum toxin substrate-1 (RAC1) signaling and inhibitory presynaptic input; furthermore, it shifts the neuronal excitation-inhibition balance in postsynaptic neurons toward excitation.
Total Sample	To test whether GIT1 associates with ADHD susceptibility, they genotyped 388 unrelated Korean children (192 with ADHD and 196 age-matched controls.
Technique	They genotyped 388 unrelated Korean children for 27 SNPs in a 19-kilobase (kb) region encompassing GIT1. Genotyping method was not mentioned in the publication.
Analysis Method	ADHD susceptibility association tests for each SNP were adjusted for gender and IQ score by treating them as covariates in multivariate logistic regression analysis. Bonferroni correction (significance level alpha=0.050 /8=0.00625) for multiple testing was used.
Result Description	An intronic single-nucleotide polymorphism in GIT1, the minor allele of which causes reduced GIT1 expression, shows a strong association with ADHD susceptibility in humans.

SNPs reported by this study (count: 1)

Genes reported by this study (count: 1)