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Brain Sci. 2015, 5(2), 188-200;

Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population

Research Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, Japan
MEXT Strategic Research Program for Brain Sciences (SRPBS), Okazaki 444-0840, Japan
Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8641, Japan
Medical Education Research Center, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8640, Japan
Author to whom correspondence should be addressed.
Academic Editors: Susan Shur-Fen Gau and Xiaoming Wang
Received: 10 November 2014 / Revised: 4 May 2015 / Accepted: 11 May 2015 / Published: 20 May 2015
(This article belongs to the Special Issue Autism Spectrum Disorder)
Full-Text   |   PDF [268 KB, uploaded 20 May 2015]   |  


CD157, also referred to as bone marrow stromal cell antigen-1 (BST-1), is a glycosylphosphatidylinositol-anchored molecule that promotes pre-B-cell growth. Previous studies have reported associations between single-nucleotide polymorphisms (SNPs) of the CD157/BST1 gene with Parkinson’s disease. In an attempt to determine whether SNPs or haplotypes in the CD157/BST1 are associated with other brain disorders, we performed a case-control study including 147 autism spectrum disorder (ASD) patients at Kanazawa University Hospital in Japan and 150 unselected Japanese volunteers by the sequence-specific primer-polymerase chain reaction method combined with fluorescence correlation spectroscopy. Of 93 SNPs examined, two SNPs showed significantly higher allele frequencies in cases with ASDs than in unaffected controls (rs4301112, OR = 6.4, 95% CI = 1.9 to 22, p = 0.0007; and rs28532698, OR = 6.2, 95% CI = 1.8 to 21, p = 0.0012; Fisher’s exact test; p < 0.002 was considered significant after multiple testing correction). In addition, CT genotype in rs10001565 was more frequently observed in the ASD group than in the control group (OR = 15, 95% CI = 2.0 to 117, p = 0.0007; Fisher’s exact test). The present data indicate that genetic variation of the CD157/BST1 gene might confer susceptibility to ASDs. View Full-Text
Keywords: autism spectrum disorder; BST-1; CD157; single-nucleotide polymorphism autism spectrum disorder; BST-1; CD157; single-nucleotide polymorphism

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Yokoyama, S.; Al Mahmuda, N.; Munesue, T.; Hayashi, K.; Yagi, K.; Yamagishi, M.; Higashida, H. Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population. Brain Sci. 2015, 5, 188-200.

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