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Pilot Study Revealed Association of DRD4 Promoter Variants with ADHD Associated Functional Deficit in Indian Probands

Subhamita Maitra, Kaushik Mukherjee, Mahasweta Chatterjee, Arijit Karmakar, Swagata Sinha, Kanchan Mukhopadhyay

Volume 16 Issue 2

Global Journal of Medical Research

Background: Attention Deficit Hyperactivity Disorder (ADHD) is often associated with cognitive deficit. Since brain regions regulating cognition has higher expression of Dopamine receptor 4 (DRD4), we explored association between functional DRD4 promoter variants and cognition of ADHD probands. Methods: Subjects recruited following DSM-IV-TR were assessed for Short Attention Span (SAS) and Erratic Organization Capability (EOC), based on scores obtained through Conner’s Parent Rating Scale and DSM-IV-TR as well as computerized games. Functional variants were analyzed in ADHD probands, their parents and age-matched controls. Results: Probands exhibited significant impairment in SAS and EOC. rs10902180, rs747303, rs936462, showed association with cognitive deficit. Probands with co-morbid learning disability showed higher cognitive impairment. Significant interactive effects were evident between the markers. Conclusion: Impaired in information processing and scholastic performance, strong genotype-phenotype correlations more robust in ADHD cases with learning difficulty, suggest significant contribution of DRD4 in ADHD etiology, possibly due to attenuated receptor functioning.
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