期刊
PSYCHIATRY AND CLINICAL NEUROSCIENCES
卷 69, 期 3, 页码 131-135出版社
WILEY-BLACKWELL
DOI: 10.1111/pcn.12205
关键词
autism spectrum disorder; Japanese; non-synonymous variation; OXTR; resequencing
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.
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