OBJECTIVES: Neurotransmitter systems and neurotrophic factors can be considered strong candidates for autism spectrum disorder (ASD). The serotoninergic and dopaminergic systems are involved in neurotransmission, brain maturation and cortical organization, while neurotrophic factors (NTFs) participate in neurodevelopment, neuronal survival and synapses formation. We aimed to test the contribution of these candidate pathways to autism through a case-control association study of genes selected both for their role in central nervous system functions and for pathophysiological evidences. METHODS: The study sample consisted of 326 unrelated autistic patients and 350 gender-matched controls from Spain. We genotyped 369 tagSNPs to perform a case-control association study of 37 candidate genes. RESULTS: A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). Haplotype-based analysis pinpointed a four-marker combination in this gene associated with the disorder (rs2329340C-rs2044859T-rs6592961A-rs11761683T, P = 4.988e-05). No significant results were obtained for the remaining genes after applying multiple testing corrections. However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). CONCLUSIONS: Our data suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.
OBJECTIVES: Neurotransmitter systems and neurotrophic factors can be considered strong candidates for autism spectrum disorder (ASD). The serotoninergic and dopaminergic systems are involved in neurotransmission, brain maturation and cortical organization, while neurotrophic factors (NTFs) participate in neurodevelopment, neuronal survival and synapses formation. We aimed to test the contribution of these candidate pathways to autism through a case-control association study of genes selected both for their role in central nervous system functions and for pathophysiological evidences. METHODS: The study sample consisted of 326 unrelated autisticpatients and 350 gender-matched controls from Spain. We genotyped 369 tagSNPs to perform a case-control association study of 37 candidate genes. RESULTS: A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). Haplotype-based analysis pinpointed a four-marker combination in this gene associated with the disorder (rs2329340C-rs2044859T-rs6592961A-rs11761683T, P = 4.988e-05). No significant results were obtained for the remaining genes after applying multiple testing corrections. However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). CONCLUSIONS: Our data suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.
Authors: Orna Levran; Matthew Randesi; Joel Correa da Rosa; Jurg Ott; John Rotrosen; Miriam Adelson; Mary Jeanne Kreek Journal: Ann Hum Genet Date: 2015-02-27 Impact factor: 1.670
Authors: Daniel P Eisenberg; Philip D Kohn; Catherine E Hegarty; Angela M Ianni; Bhaskar Kolachana; Michael D Gregory; Joseph C Masdeu; Karen F Berman Journal: Neuropsychopharmacology Date: 2016-02-29 Impact factor: 7.853
Authors: Jonathan Savitz; Colin A Hodgkinson; Chantal Martin-Soelch; Pei-Hong Shen; Joanna Szczepanik; Allison Nugent; Peter Herscovitch; Anthony A Grace; David Goldman; Wayne C Drevets Journal: PLoS One Date: 2013-01-24 Impact factor: 3.240
Authors: Dimitrios Andreou; Erik Söderman; Tomas Axelsson; Göran C Sedvall; Lars Terenius; Ingrid Agartz; Erik G Jönsson Journal: Behav Brain Funct Date: 2014-07-29 Impact factor: 3.759