Genetic studies of autism and autistic-like traits
Abstract
Autism spectrum disorder (ASD) is characterized by impairment in social interaction,\nlanguage impairment and repetitive behavior with varying degrees of severity. ASD\nrepresents the lower end on a continuously distributed measure of autistic-like traits\n(ALTs). Although a strong genetic component has repeatedly been identified in ASD,\nthe genetic cause of ASD is still unknown for the majority of ASD cases.\nOne of the main interests in this thesis is the neurobiology of melatonin, this\ninterest is based on findings indicating lower levels of melatonin in children with\nASD. In our investigations of rare mutations in melatonin related genes in subjects\nwith ASD, we identified a previously reported mutation that has been shown to\ndecrease the activity of one of the enzymes involved in the melatonin synthesis: the\nacetylserotonin O-methyltransferase (ASMT) (paper I). In the analysis of five common\nvariations in the ASMT gene in relation to ALTs in the general population we found\nassociation between a single nucleotide polymorphism and social interaction\nimpairment in girls (paper II).\nTo broaden the analysis of genetic influences on ALTs, we have performed\nassociation analyses between ALTs in the general population and common variation in\ngenes previously found to be associated with ASD (RELN, CNTNAP2, SHANK3 and\nCDH9/10 region) (paper III). Although these regions have previously been suggested\nto be strong ASD candidate regions, our results do not suggest a…
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