GO network analysis classified 13 genes, i.e., catalytic subunit of the oligosaccharyltransferase complex, keratocan, glutamate metabotropic receptor 8 (GRM8), NADH: ubiquinone oxidoreductase subunit B9, dopamine receptor D5 (DRD5
), platelet derived growth factor receptor beta (PDGFRB), MACRO domain containing 1, nuclear receptor corepressor 1 (NCOR1), follicle stimulating hormone receptor (FSHR), N-acylsphingosine amidohydrolase 1 (ASAH1), MTSS1, I-BAR domain containing (MTSS1), glutamyl aminopeptidase (ENPEP), and uroplakin 3A, encompassing 118 nsSNPs, into 5 GO terms (p<0.05) that were associated with kidney development and metabolic processes.
Futuros estudios centrados en otras variantes geneticas candidatas de estos y otros genes involucrados en neurotransmision y/o funciones similares--como DRD4, DRD5
, HTR1B, SNAP-25, LPHN3 y NOS153--, en combinacion con analisis clinicos mas robustos y una muestra poblacional mas grande, podran contribuir a una mejor compresion del TDAH en la poblacion colombiana.
Significant associations have been shown between DAT-1, DRD4, DRD5
, 5HTT, HTR1B and SNAP-25 genes and the ADHD.5,7
Furthermore, their team was the first to report a significant association between nicotine dependence and genetic variants in DRD5
, MAP3K4 and NPY1R.
DRD1 and DRD5
activate adenylyl cyclase and increase cAMP production.
In addition, a study of 74 individuals in a single family revealed a 75% penetrance of a defect linked to chromosome 4p16.1, which is related to dopaminergic receptors DRD5
Furthermore, the authors did not observe significant association of cue-elicited craving with the nine-repeat allelic variants in dopamine transporter gene (DAT) SLC6A3 and with the dinucleotide repeat polymorphism (DRP) 148bp allele in D5 dopamine receptor gene (DRD5
Polymorphisms in the dopamine transporter gene (DAT1, SLC6A3) and the dopamine 4 (D4) receptor gene (DRD4) have been most often associated with ADHD; other candidate genes with significant associations in meta-analyses include the dopamine D5 receptor (DRD5
), serotonin transporter (5HTT, SLC6A4), serotonin receptor 1B (5HT1B, HTR1B), and synaptosomal-associated protein 25 (SNAP25) (Gizer et al.
Proposed candidate genes include the dopamine D4 receptor gene (DRD4), dopamine D5 receptor gene (DRD5
), the dopamine transporter gene (DAT), the dopamine beta-hydroxylase gene (DBH), the serotonin transporter gene (5-HTT), the serotonin receptor 1B gene (HTR1B), and the synaptosomal-associated protein 25 gene (SNAP25).