title: HTR1B and HTR2C in autism spectrum disorders in Brazilian families.
abstract: Autism spectrum disorders (ASD) is a group of behaviorally defined neurodevelopmental disabilities characterized by multiple genetic etiologies and a complex presentation. Several studies suggest the involvement of the serotonin system in the development of ASD, but only few have investigated serotonin receptors. We have performed a case-control and a family-based study with 9 polymorphisms mapped to two serotonin receptor genes (HTR1B and HTR2C) in 252 Brazilian male ASD patients of European ancestry. These analyses showed evidence of undertransmission of the HTR1B haplotypes containing alleles -161G and -261A at HTR1B gene to ASD (P=0.003), but no involvement of HTR2C to the predisposition to this disease. Considering the relatively low level of statistical significance and the power of our sample, further studies are required to confirm the association of these serotonin-related genes and ASD.
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: G M
authors.initials: GM
authors.lastname: Orabona
authors.forename: K
authors.initials: K
authors.lastname: Griesi-Oliveira
authors.forename: E
authors.initials: E
authors.lastname: Vadasz
authors.forename: V L S
authors.initials: VL
authors.lastname: Bulcão
authors.forename: V N V O
authors.initials: VN
authors.lastname: Takahashi
authors.forename: E S
authors.initials: ES
authors.lastname: Moreira
authors.forename: M
authors.initials: M
authors.lastname: Furia-Silva
authors.forename: A M S
authors.initials: AM
authors.lastname: Ros-Melo
authors.forename: F
authors.initials: F
authors.lastname: Dourado
authors.forename: S R
authors.initials: SR
authors.lastname: Matioli
authors.forename: R
authors.initials: R
authors.lastname: Matioli
authors.forename: P
authors.initials: P
authors.lastname: Otto
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D001938:Brazil; D016022:Case-Control Studies; D005190:Family; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D044302:Receptor, Serotonin, 5-HT1B / Q000235:genetics*; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C470302:HTR1B protein, human; D044302:Receptor, Serotonin, 5-HT1B; D044405:Receptor, Serotonin, 5-HT2C