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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

Schematic genomic structure of the human CD157/BST1 gene and locations of single-nucleotide-polymorphisms (SNPs). The exon-intron organization is depicted based on GenBank accession numbers NM_004334 and NC_000004. Black and open boxes represent protein-coding regions and untranslated regions, respectively. The SNPs (indicated in bold type) are selected from those statistically analyzed in this study; rs12502586 was not tested (plain and italicized). Red lettering represents SNPs that showed significant association with ASD in allele and/or genotype frequencies in the present study; asterisks indicate those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30]. The locations of the SNPs on human chromosome 4 (chr4) are indicated in parentheses; numbers after colons represent genomic positions based on the human genome assembly GRCh37/hg19 at the UCSC Genome Bioinformatics Site [44].
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brainsci-05-00188-f001: Schematic genomic structure of the human CD157/BST1 gene and locations of single-nucleotide-polymorphisms (SNPs). The exon-intron organization is depicted based on GenBank accession numbers NM_004334 and NC_000004. Black and open boxes represent protein-coding regions and untranslated regions, respectively. The SNPs (indicated in bold type) are selected from those statistically analyzed in this study; rs12502586 was not tested (plain and italicized). Red lettering represents SNPs that showed significant association with ASD in allele and/or genotype frequencies in the present study; asterisks indicate those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30]. The locations of the SNPs on human chromosome 4 (chr4) are indicated in parentheses; numbers after colons represent genomic positions based on the human genome assembly GRCh37/hg19 at the UCSC Genome Bioinformatics Site [44].

Mentions: Of 121 SNPs examined (Supplementary Table S1), 93 with a high success rate (>95%) were further subjected to statistical analysis. Among them, three 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; rs28532698, OR = 6.2, 95% CI = 1.8 to 21, p = 0.0012 and rs10001565, OR = 5.5, 95% CI = 1.6 to 19, p = 0.0038; Fisher’s exact test; Table 1). rs4301112, rs28532698, and rs10001565 are located in introns 4, 6, and 7, respectively (Figure 1). 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). In rs10001565, only C/T genotype was significantly more frequent in the ASD group than in the unaffected control group (OR = 15, 95% CI = 2.0 to 117, p = 0.0007; Fisher’s exact test; Table 1).


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)

Schematic genomic structure of the human CD157/BST1 gene and locations of single-nucleotide-polymorphisms (SNPs). The exon-intron organization is depicted based on GenBank accession numbers NM_004334 and NC_000004. Black and open boxes represent protein-coding regions and untranslated regions, respectively. The SNPs (indicated in bold type) are selected from those statistically analyzed in this study; rs12502586 was not tested (plain and italicized). Red lettering represents SNPs that showed significant association with ASD in allele and/or genotype frequencies in the present study; asterisks indicate those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30]. The locations of the SNPs on human chromosome 4 (chr4) are indicated in parentheses; numbers after colons represent genomic positions based on the human genome assembly GRCh37/hg19 at the UCSC Genome Bioinformatics Site [44].
© Copyright Policy
Related In: Results  -  Collection

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

brainsci-05-00188-f001: Schematic genomic structure of the human CD157/BST1 gene and locations of single-nucleotide-polymorphisms (SNPs). The exon-intron organization is depicted based on GenBank accession numbers NM_004334 and NC_000004. Black and open boxes represent protein-coding regions and untranslated regions, respectively. The SNPs (indicated in bold type) are selected from those statistically analyzed in this study; rs12502586 was not tested (plain and italicized). Red lettering represents SNPs that showed significant association with ASD in allele and/or genotype frequencies in the present study; asterisks indicate those previously reported as Parkinson’s disease-associated markers [21,23,24,25,27,28,29,30]. The locations of the SNPs on human chromosome 4 (chr4) are indicated in parentheses; numbers after colons represent genomic positions based on the human genome assembly GRCh37/hg19 at the UCSC Genome Bioinformatics Site [44].
Mentions: Of 121 SNPs examined (Supplementary Table S1), 93 with a high success rate (>95%) were further subjected to statistical analysis. Among them, three 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; rs28532698, OR = 6.2, 95% CI = 1.8 to 21, p = 0.0012 and rs10001565, OR = 5.5, 95% CI = 1.6 to 19, p = 0.0038; Fisher’s exact test; Table 1). rs4301112, rs28532698, and rs10001565 are located in introns 4, 6, and 7, respectively (Figure 1). 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). In rs10001565, only C/T genotype was significantly more frequent in the ASD group than in the unaffected control group (OR = 15, 95% CI = 2.0 to 117, p = 0.0007; Fisher’s exact test; Table 1).

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