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Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males
- Source :
- Progress in Neuro-Psychopharmacology and Biological Psychiatry. 71:123-136
- Publication Year :
- 2016
- Publisher :
- Elsevier BV, 2016.
-
Abstract
- Serotonergic system participates in various developmental processes and modulation of behaviour. Autism Spectrum Disorder (ASD) is characterized by a range of behavioral symptoms scaling from mild to severe. Abnormal 5-HT synthesis and signalling, platelet hyperserotonemia and amelioration of repetitive behaviours by SSRI are some of the key findings, which reinforced the hypothesis that serotonergic genes might act as ASD susceptible genes. Therefore, genes encoding monoamine oxidases A/B (MAOA/MAOB) received special attention as these genes are located on the X-chromosome and the gene products are responsible for 5-HT degradation. In the present study, we conducted population-based association analysis of eight markers of MAOB with ASD in a study cohort of 203 cases and 236 controls form India and examined its effect on platelet 5-HT content and behaviour. Gender-specific changes were observed for the contrasting LD between pair of markers among cases and controls. Case-control analysis demonstrated over-distribution of major C allele of rs2283728 and rs2283727 in male and female ASD cases respectively. Haplotypic distribution and interaction among markers showed more robust effect in male cases. Interestingly, male ASD cases displayed higher platelet 5-HT content in comparison to the respective controls. Quantitative trait analysis revealed significant correlation of genetic variants and haplotypes of MAOB markers, rs1799836 and rs6324 with increased platelet 5-HT level and CARS scores for specific behavioral symptoms respectively in males. This study suggests that MAOB increases ASD risk in males, possibly through its sex-specific regulatory effect on 5-HT metabolism and behavior.
- Subjects :
- Adult
Male
0301 basic medicine
Serotonin
medicine.medical_specialty
Adolescent
Autism Spectrum Disorder
Population
India
Quantitative trait locus
Serotonergic
Polymorphism, Single Nucleotide
Young Adult
03 medical and health sciences
Sex Factors
0302 clinical medicine
medicine
Humans
Genetic Predisposition to Disease
Allele
Child
education
Psychiatry
Monoamine Oxidase
Biological Psychiatry
Genetic association
Psychiatric Status Rating Scales
Pharmacology
Genetics
education.field_of_study
Mental Disorders
medicine.disease
030104 developmental biology
Autism spectrum disorder
Case-Control Studies
Child, Preschool
Childhood Autism Rating Scale
Female
Monoamine oxidase B
Psychology
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 02785846
- Volume :
- 71
- Database :
- OpenAIRE
- Journal :
- Progress in Neuro-Psychopharmacology and Biological Psychiatry
- Accession number :
- edsair.doi.dedup.....19741d01f3f42cdfd29902d0a9494d66