Yokoyama Shigeru, Al Mahmuda Naila, Munesue Toshio, Hayashi Kenshi, Yagi Kunimasa, Yamagishi Masakazu, Higashida Haruhiro
Research Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, Japan.
MEXT Strategic Research Program for Brain Sciences (SRPBS), Okazaki 444-0840, Japan.
Brain Sci. 2015 May 20;5(2):188-200. doi: 10.3390/brainsci5020188.
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.
CD157，也被称为骨髓基质细胞抗原-1（BST-1），是一种糖基磷脂酰肌醇锚定分子，可促进前B细胞生长。先前的研究报道了CD157/BST1基因的单核苷酸多态性（SNP）与帕金森病之间的关联。为了确定CD157/BST1中的SNP或单倍型是否与其他脑部疾病相关，我们采用序列特异性引物-聚合酶链反应方法结合荧光相关光谱技术，对日本金泽大学医院的147例自闭症谱系障碍（ASD）患者和150名未经过挑选的日本志愿者进行了病例对照研究。在所检测的93个SNP中，有两个SNP在ASD患者中的等位基因频率显著高于未受影响的对照组（rs4301112，比值比[OR]=6.4，95%置信区间[CI]=1.9至22，p=0.0007；以及rs28532698，OR=6.2，95%CI=1.8至21，p=0.0012；Fisher精确检验；经过多重检验校正后，p<0.002被认为具有显著性）。此外，rs10001565的CT基因型在ASD组中的出现频率高于对照组（OR=15，95%CI=2.0至117，p=0.0007；Fisher精确检验）。目前的数据表明，CD157/BST1基因的遗传变异可能会使个体易患ASD。
