Abstract
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.
Highlights
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, communication difficulties, and restricted repetitive behaviors [1]
Three single-nucleotide polymorphisms (SNPs) showed significantly higher allele frequencies in cases with ASDs than in unaffected controls. rs4301112, rs28532698, and rs10001565 are located in introns
After multiple testing correction for effective total number of SNPs, significantly higher allele frequency was observed in rs4301112 and rs28532698, but not in rs10001565 (Table 1)
Summary
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, communication difficulties, and restricted repetitive behaviors [1]. CD157, referred to as bone marrow stromal antigen-1 (BST-1), belongs to the NADase/ADP-ribosyl cyclase family, which includes CD38 [5,6,7,8,9,10,11,12,13] We have recently demonstrated that mice deficient in the CD157/BST1 gene exhibited anxiety-related and depression-like behaviors [32] It is unknown, whether variation of the CD157/BST1 gene is associated with other brain disorders. We performed a case-control study to test CD157/BST1 genetic variation for association with ASDs
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
