Association study of common genetic variants at ABCA13 gene in schizophrenia

来源 :中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 | 被引量 : 0次 | 上传用户:manhong85
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  It has been suggested that the genetic architecture of schizophrenia involve the action of common variants of small to moderate effects and possibly also some rare variants with much larger effect sizes,while the relative contribution of different classes or mechanisms of genetic risk and their potential interaction are unknown.Recently,It has been reported that rare genetic variants in adenosine triphosphate (ATP)-binding cassette A13(ABCA13)increase susceptibility to schizophrenia,bipolar disorder and major depression.However,some of the rare variants are failed to be replicated in an independent sample set,and the copy number variants in the ABCA13 gene are found to show no evidence conferring risk of schizophrenia and bipolar disorder.We performed an association study between the common alleles at ABCA13 gene and schizophrenia in the Han Chinese population consisting of 488 schizophrenia patients and 506 healthy controls.7 SNPs(rs4917139,rs7804075,rs 1880738,rs2361519,rs4917152,rs3923511 and rs6955686)were genotyped and no association between patients and controls was detected either in the single-marker or the haplotype analyses(P>0.05).Our results demonstrated that common genetic variants at ABCA13 gene are unlikely to be related to the pathogenesis of schizophrenia in the studied Han Chinese population.
其他文献
Objectives To explore the accuracy of sex chromosome aneuploidy detection when clinically applied MPS-based noninvasive fetal aneuploidy test in Southwest hospital and investigate the accuracy of this
近年来,未成熟睾丸组织异种移植技术不仅成为揭示睾丸生理学和雄性生殖细胞发育的有用工具,也为遗传学家研究转基因动物、突变或克隆动物提供有了利条件,同时也为雄性生殖系的保存提供了新思路,从而可为有价值的畜牧和珍惜/濒危物种保护提供有价值的方案。本课题组以新生小鼠睾丸组织为供体,免疫缺陷小鼠为受体进行组织移植;将1~2 d龄昆明小鼠睾丸组织植入去势裸鼠背部,于移植后40~110 d取出移植物,观察生精小
会议
研究adipoq基因及其蛋白受体基因adipoR1/R2单核苷酸多态性(single nucleotide polymorphism,SNPs)与汉族人群胃癌易感性关系,了解这些位点基因型频率和等位基因频率变化与胃癌临床病理特征相关性,以探讨胃癌患者遗传学发病机制.方法 采用Sequenom基因分型仪对安徽地区311例胃癌患者及425例正常对照组样本血样adipoq基因和adipoR1/R2基因的
Pre-eclampsia is the most common complication in obstetric in pregnant women,but the real pathogenesis is still poorly understood.Family-based studies have confirmed that the incidence of pre-eclampsi
As an important epigenetic mechanism,histone acetylation modulates the transcription of many genes and plays important roles in hepatocellular carcinoma(HCC).Aberrations in histone acetylation have be
目的 观察人类法洛四联症患儿VANGL2基因编码区中是否存在改变.方法 将100例法洛四联症患儿(病例组)与200例健康儿童(对照组)纳为研究对象,应用Sanger测序法对VANGL2基因编码区的PCR产物进行测序,使用Mutation Surveyor 3.25 DNA变异分析软件对测序结果与Genbank中的参考序列进行比对,查找是否存在突变以及有差异的单核苷酸多态性(SNP)位点.采用SPS
会议
Recently,long non-coding RNA is thought to be contained in human genome as important regulatory transcripts in which we can identify far more previously unappreciated.They serve as scaffolds associati
目的 Rett综合征(Rett syndrome,RTT)是一种神经系统发育异常性疾病,主要累及女孩,发病率约为1/10000.本研究旨在探讨中国Rett综合征患儿的遗传特点.方法 对365例Rett综合征中国患儿的临床资料、家族史、母亲的生育史等通过直接问诊、随访及问卷调查进行收集,知情同意后抽取患儿及其父母外周血.应用聚合酶链式反应(polymerase chain reaction,PCR)
目的 肝细胞癌(Hepatocellular carcinoma,HCC)是我国常见恶性肿瘤之一.提高肝细胞癌早期诊断以及高危人群的风险预测,是降低肝细胞癌发生风险的重要手段.本文探讨了HCC患者CDH1、GSTP1和RASSF1A基因启动子区域异常甲基化以及淋巴细胞微核对肝细胞癌发生风险的影响.方法 应用甲基化特异性PCR(methylation-specific PCR,MSP)技术对HCC患
目的 角膜炎-鱼鳞病-耳聋综合征(keratitis-ichthyosis-deafness syndrome,KID)是一种罕见的常染色体遗传性疾病.本文对临床上收集到的2例患者进行了基因突变研究.方法 收集患者临床资料,采集患者家系成员外周血.提取患儿及其父母外周血基因组DNA,采用PCR扩增GJB2基因编码区的全部外显子及侧翼序列,DNA直接测序,明确突变位点.结果 两例患者均出现典型的KI
会议