Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population
BRAIN SCIENCES
Authors: Yokoyama, Shigeru; Al Mahmuda, Naila; Munesue, Toshio; Hayashi, Kenshi; Yagi, Kunimasa; Yamagishi, Masakazu; Higashida, Haruhiro
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.
Analysis of Genome-wide Association Study-linked Loci in Parkinson's Disease of Mainland China
MOVEMENT DISORDERS
Authors: Liu, Jun; Xiao, Qin; Wang, Ying; Xu, Zhi-Min; Wang, Ying; Yang, Qiong; Wang, Gang; Tan, Yu-Yan; Ma, Jian-Fang; Zhang, Jin; Huang, Wei; Chen, Sheng-Di
Abstract
BackgroundGenome-wide association studies (GWAS) have identified numerous single-nucleotide polymorphisms (SNPs) that can modulate the risk of developing Parkinson's disease (PD). MethodsWe investigated the association of previously identified loci in a Mainland Chinese population to identify a possible ethnic-specific effect with GWAS analysis. Seventeen SNPs were genotyped from those loci using case-control methodology to analyze a total of 1,737 individuals. ResultsStrong evidence of an association for reference SNP 894278 (rs894278) and rs11931074 on 4q22 throughout the synuclein (SNCA) region was observed in our study. The SNP rs894278 confers risk via a dominant model and an additive model, whereas the minor allele G of rs11931074 reduces the risk of PD progression. The minor allele frequency of rs11724635 produced weaker signals for PD, but this was not replicated in the genotype after adjusting for age and sex. ConclusionsThis study yields new clues about GWAS-linked data in patients with PD from Mainland China. (c) 2013 International Parkinson and Movement Disorder Society