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

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.

authors

Egawa J,Watanabe Y,Shibuya M,Endo T,Sugimoto A,Igeta H,Nunokawa A,Inoue E,Someya T

doi

10.1111/pcn.12205

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

131-5

issue

3

eissn

1323-1316

issn

1440-1819

journal_volume

69

pub_type

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