Study Report

Basic Info
Reference |
Won H, 201121499268
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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.
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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
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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)
SNP |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result of Statistical Analysis |
rs550818 |
C/T |
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logistic regression P-value=0.0056, adjusted OR=2.66 for CT genotype |
rs550818 (C>T), located in intron 20 of GIT1, associated wit......
rs550818 (C>T), located in intron 20 of GIT1, associated with ADHD susceptibility after Bonferroni correction (significance level alpha=0.050/8=0.00625) for multiple testing
More...
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Significant
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Genes reported by this study (count: 1)
Gene |
Statistical Values/Author Comments |
Result of Statistical Analysis |
GIT1 |
rs550818 associated with ADHD susceptibility after Bonferron......
rs550818 associated with ADHD susceptibility after Bonferroni correction for multiple testing which identified a previously unknown involvement of GIT1 in human ADHD
More...
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Significant
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