Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability

Intellectual disability (ID) is of major concern throughout the world, though in ~40% of cases etiology remains unknown (idiopathic ID or IID). Cognitive impairment and behavioral problems are of common occurrence in these subjects and dopamine is known to play an important role in regulating these...

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Published in:Progress in neuro-psychopharmacology & biological psychiatry 2011-08, Vol.35 (7), p.1714-1722
Main Authors: Bhowmik, Aneek Das, Chaudhury, Subhramay, Dutta, Samikshan, Shaw, Jyoti, Chatterjee, Arpita, Choudhury, Arnab, Saha, Amrita, Sadhukhan, Dipanjana, Kar, Turban, Sinha, Swagata, Mukhopadhyay, Kanchan
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
Alleles
Behavioral problems
Biological and medical sciences
Catechol O-Methyltransferase - genetics
Child
Child, Preschool
Cognitive impairment
Dopamine - genetics
Dopamine Plasma Membrane Transport Proteins - genetics
Dopamine Plasma Membrane Transport Proteins - metabolism
Dopaminergic genes
Epistasis, Genetic - physiology
Epistatic interaction
Exons - physiology
Female
Genetic Predisposition to Disease
Genotype
Haplotypes - physiology
Humans
Intellectual deficiency
Intellectual Disability - etiology
Intellectual Disability - genetics
Male
Medical sciences
Mental Disorders - genetics
Minisatellite Repeats - genetics
Neuropharmacology
Pharmacology. Drug treatments
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Receptors, Dopamine D4 - genetics
Receptors, Dopamine D4 - metabolism
Sequence Analysis, DNA
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Summary:Intellectual disability (ID) is of major concern throughout the world, though in ~40% of cases etiology remains unknown (idiopathic ID or IID). Cognitive impairment and behavioral problems are of common occurrence in these subjects and dopamine is known to play an important role in regulating these traits. In the present study the role of functional polymorphisms in three dopaminergic genes, dopamine receptor D4 (DRD4: exon3 VNTR and rs1800955), dopamine transporter (DAT1: 3′UTR VNTR and intron8 VNTR) and catechol-O-methyl transferase (COMT: rs4680 and rs165599), was explored in IID. Probands (n=225), parents (n=298) and ethnically matched controls (n=175) were recruited following DSM-IV. Genotype data obtained was used for population- and family-based statistical analyses. Population-based analysis showed significant association of DRD4 exon3 VNTR 6R allele (P=0.01), DAT1 3′UTR VNTR lower repeat (6R and 7R) alleles (P
ISSN:0278-5846
1878-4216
DOI:10.1016/j.pnpbp.2011.05.005