Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population.
OBJECTIVE
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.
Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Department of Pediatric Psychiatry, Center for Transdisciplinary Research, Niigata, Japan.
Jun
J
Egawa
Yuichiro
Y
Watanabe
Masako
M
Shibuya
Taro
T
Endo
Atsunori
A
Sugimoto
Hirofumi
H
Igeta
Ayako
A
Nunokawa
Emiko
E
Inoue
Toshiyuki
T
Someya
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D018045:Receptors, Oxytocin / Q000235:genetics*; D055815:Young Adult
D018045:Receptors, Oxytocin
Japanese; OXTR; autism spectrum disorder; non-synonymous variation; resequencing