Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population
Copyright policy )Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population
AimsThe oxytocin receptor (OXTR) is implicated in the pathophysiology of autism spectrum disorder (ASD). A recent study found a rare non‐synonymous OXTR gene variation, rs35062132 (R376G), associated with ASD in a Japanese population. In order to investigate the association between rare non‐synonymous OXTR variations and ASD, we resequenced OXTR and performed association analysis with ASD in a Japanese population.MethodsWe resequenced the OXTR coding region in 213 ASD patients. Rare non‐synonymous OXTR variations detected by resequencing were genotyped in 213 patients and 667 controls.ResultsWe detected three rare non‐synonymous variations: rs35062132 (R376G/C), rs151257822 (G334D), and g.8809426G>T (R150S). However, there was no significant association between these rare non‐synonymous variations and ASD.ConclusionsOur present study does not support the contribution of rare non‐synonymous OXTR variations to ASD susceptibility in the Japanese population.
- Niigata University Japan
Adult, Male, Adolescent, Genotype, Autism Spectrum Disorder, Genetic Variation, Young Adult, Asian People, Japan, Receptors, Oxytocin, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Genetic Association Studies
Adult, Male, Adolescent, Genotype, Autism Spectrum Disorder, Genetic Variation, Young Adult, Asian People, Japan, Receptors, Oxytocin, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Genetic Association Studies
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