title: Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males.
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.
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Korea. hjpark17@gmail.com.
authors.forename: Hae Jeong
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Korea. skkim7@khu.ac.kr.
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Korea. menuhin@hanmail.net.
authors.forename: Won Sub
authors.initials: WS
authors.lastname: Kang
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Korea. parkdawit@naver.com.
authors.forename: Jin Kyung
authors.initials: JK
authors.lastname: Park
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Korea. jimmypage@nate.com.
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Seoul Metropolitan Eunpyeong Hospital, Seoul 06801, Korea. passion17@hanmail.net.
authors.forename: Min
authors.initials: M
authors.lastname: Nam
authors.affiliation: Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 02447, Korea. psyjong@gmail.com.
authors.forename: Jong Woo
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul 02447, Korea. jhchung@khu.ac.kr.
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D016022:Case-Control Studies; D006801:Humans; D055504:Insulin Receptor Substrate Proteins / Q000235:genetics*; D008297:Male; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis
chemical_list: C526292:IRS1 protein, human; D055504:Insulin Receptor Substrate Proteins
keywords: autism spectrum disorder; insulin receptor substrate; insulin-like growth factor; single nucleotide polymorphism