Mar, 2015
Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population.
Psychiatry and clinical neurosciences
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- Volume
- 69
- Number
- 3
- First page
- 131
- Last page
- 5
- Language
- English
- Publishing type
- Research paper (scientific journal)
- DOI
- 10.1111/pcn.12205
- Publisher
- WILEY-BLACKWELL
AIMS: The 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. METHODS: We 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. RESULTS: We 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. CONCLUSIONS: Our present study does not support the contribution of rare non-synonymous OXTR variations to ASD susceptibility in the Japanese population.
- Link information
- ID information
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- DOI : 10.1111/pcn.12205
- ISSN : 1323-1316
- eISSN : 1440-1819
- Pubmed ID : 24836510
- Web of Science ID : WOS:000351046600002