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

Yokoyama S, Al Mahmuda N, Munesue T, Hayashi K, Yagi K, Yamagishi M, Higashida H - Brain Sci (2015)

Bottom Line: 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 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).

View Article: PubMed Central - PubMed

Affiliation: Research Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, Japan. shigeruy@med.kanazawa-u.ac.jp.

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.

No MeSH data available.


Related in: MedlinePlus

Linkage disequilibrium plot of the CD157/BST1 gene in the sample studied. Numbers in the squares indicate D′ values. Rs numbers in red represent SNPs that showed significant association with ASD in this study; asterisks denote those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30].
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brainsci-05-00188-f002: Linkage disequilibrium plot of the CD157/BST1 gene in the sample studied. Numbers in the squares indicate D′ values. Rs numbers in red represent SNPs that showed significant association with ASD in this study; asterisks denote those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30].

Mentions: LD analysis of these SNPs identified two haplotype blocks: a 5-kb one comprising the ASD-associated rs4301112, rs28532698 and rs10001565 (Block 1; Figure 2), and a 12-kb one including the SNPs associated with Parkinson’s disease (Block 2; Figure 2).


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

Yokoyama S, Al Mahmuda N, Munesue T, Hayashi K, Yagi K, Yamagishi M, Higashida H - Brain Sci (2015)

Linkage disequilibrium plot of the CD157/BST1 gene in the sample studied. Numbers in the squares indicate D′ values. Rs numbers in red represent SNPs that showed significant association with ASD in this study; asterisks denote those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30].
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4493464&req=5

brainsci-05-00188-f002: Linkage disequilibrium plot of the CD157/BST1 gene in the sample studied. Numbers in the squares indicate D′ values. Rs numbers in red represent SNPs that showed significant association with ASD in this study; asterisks denote those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30].
Mentions: LD analysis of these SNPs identified two haplotype blocks: a 5-kb one comprising the ASD-associated rs4301112, rs28532698 and rs10001565 (Block 1; Figure 2), and a 12-kb one including the SNPs associated with Parkinson’s disease (Block 2; Figure 2).

Bottom Line: 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 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).

View Article: PubMed Central - PubMed

Affiliation: Research Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, Japan. shigeruy@med.kanazawa-u.ac.jp.

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.

No MeSH data available.


Related in: MedlinePlus