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Int. J. Mol. Sci. 2016, 17(8), 1227; doi:10.3390/ijms17081227

Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males

1
Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Korea
2
Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Korea
3
Seoul Metropolitan Eunpyeong Hospital, Seoul 06801, Korea
*
Author to whom correspondence should be addressed.
Academic Editors: Merlin G. Butler and Katalin Prokai-Tatrai
Received: 11 May 2016 / Revised: 13 July 2016 / Accepted: 25 July 2016 / Published: 29 July 2016
View Full-Text   |   Download PDF [208 KB, uploaded 29 July 2016]   |  

Abstract

The insulin-like growth factor (IGF) pathway is thought to play an important role in brain development. Altered levels of IGFs and their signaling regulators have been shown in autism spectrum disorder (ASD) patients. In this study, we investigated whether coding region single-nucleotide polymorphisms (cSNPs) of the insulin receptor substrates (IRS1 and IRS2), key mediators of the IGF pathway, were associated with ASD in Korean males. Two cSNPs (rs1801123 of IRS1, and rs4773092 of IRS2) were genotyped using direct sequencing in 180 male ASD patients and 147 male control subjects. A significant association between rs1801123 of IRS1 and ASD was shown in additive (p = 0.022, odds ratio (OR) = 0.66, 95% confidence interval (CI) = 0.46–0.95) and dominant models (p = 0.013, OR = 0.57, 95% CI = 0.37–0.89). Allele frequency analysis also showed an association between rs1801123 and ASD (p = 0.022, OR = 0.66, 95% CI = 0.46–0.94). These results suggest that IRS1 may contribute to the susceptibility of ASD in Korean males. View Full-Text
Keywords: autism spectrum disorder; insulin receptor substrate; single nucleotide polymorphism; insulin-like growth factor autism spectrum disorder; insulin receptor substrate; single nucleotide polymorphism; insulin-like growth factor
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MDPI and ACS Style

Park, H.J.; Kim, S.K.; Kang, W.S.; Park, J.K.; Kim, Y.J.; Nam, M.; Kim, J.W.; Chung, J.-H. Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males. Int. J. Mol. Sci. 2016, 17, 1227.

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