title: Lack of association between down syndrome and polymorphisms in dopamine receptor D4 and serotonin transporter genes.
abstract: Down Syndrome (DS) patients suffer from cognitive dysfunction, depression, hyperactivity, irritability etc. Dopamine (DA) and serotonin (5HT) are known to control cognitive and behavioral attributes. An increased number of the DA receptor 4 (DRD4) is detected in brain regions primarily involved in cognition. Impairments in executive function have also been reported with depletion in 5HT. A variable number of tandem repeat (VNTR) in the exon 3 of DRD4 and an insertion/deletion polymorphism in the promoter region of 5HT transporter (5HTTLPR) have been found to be associated with different neurobehavioral disorders; however, association of these polymorphisms with DS has never been explored. The present family-based analysis on DS revealed significant over-transmission of a DRD4 VNTR allele which encodes for D4 receptor with average activity. No association was noticed for the 5HTTLPR. We may conclude that these genetic polymorphisms are not contributing to the neuromotor and cognitive dysfunctions observed in DS.
authors.affiliation: Manovikas Biomedical Research and Diagnostic Centre, Manovikas Kendra, 482, Madudah, Plot I-24, Sec.-J, E.M. Bypass, Kolkata 700107, India.
authors.forename: Aneek
authors.initials: A
authors.lastname: Das Bhowmik
authors.forename: Samikshan
authors.initials: S
authors.lastname: Dutta
authors.forename: Swagata
authors.initials: S
authors.lastname: Sinha
authors.forename: Anindita
authors.initials: A
authors.lastname: Chattopadhyay
authors.forename: Kanchan
authors.initials: K
authors.lastname: Mukhopadhyay
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D050638:Receptors, Dopamine D4 / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D050486:Serotonin Plasma Membrane Transport Proteins; D050638:Receptors, Dopamine D4