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. 2015 Mar;69(3):131-5.
doi: 10.1111/pcn.12205. Epub 2014 Jul 7.

Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population

Jun Egawa  1 , Yuichiro Watanabe, Masako Shibuya, Taro Endo, Atsunori Sugimoto, Hirofumi Igeta, Ayako Nunokawa, Emiko Inoue, Toshiyuki Someya
Affiliations

Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population

Jun Egawa et al. Psychiatry Clin Neurosci. 2015 Mar.

Abstract

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.

Keywords: Japanese; OXTR; autism spectrum disorder; non-synonymous variation; resequencing.

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