| 1 | Zhonghua Liu Xing Bing Xue Za Zhi 2004年9月25日：787-90 |
|---|---|
| PMID | 15555361 |
| Title | [Searching for a schizophrenia susceptibility gene in the 22q11 region]. |
| 抽象的 | To investigate the genetic association for精神分裂症在汉族中国人口的长臂区域1染色体1（22q11）的长臂区域1中。 聚合酶链反应（PCR）基于限制性片段长度多态性（RFLP）分析用于检测三种单核苷酸多态性（SNP），RS165655（a/g基础变化）和RS165815（C/T基本变化）ARVCF(armadillo repeat gene deletion in velocardiofacial syndrome) locus, and rs756656 (A/C base change) in the LOC128979 (expressed sequence tags, EST) locus, among 100 nuclear families composed of fathers, mothers and affected offspring with精神分裂症。通过连锁不平衡方法（包括单倍型相对风险（HRR）分析，传输不平衡测试（TDT）和单倍型传输分析）分析基因分型数据。 The genotype frequency distributions of three SNPs were all in Hardy-Weinberg equilibrium; Both HRR and TDT analysis showed that rs165815 was associated with精神分裂症(P < 0.05), whereas the other two SNPs did not show any allelic association. The haplotype transmission analysis showed a biased transmission for the rs165655-rs165815 haplotype system and for the rs756656-rs165655-rs165815 haplotype system (P < 0.01). 任何一个ARVCFgene itself or a nearby locus might confer susceptibility to精神分裂症在中国人口中。 |
| SCZ Keywords | 精神分裂症 |
| 2 | 精神分裂。res。2005年1月72日：275-7 |
| PMID | 15560973 |
| Title | Mutation analysis of ARVCF gene on chromosome 22q11 as a candidate for a schizophrenia gene. |
| 抽象的 | -1 |
| SCZ Keywords | 精神分裂症 |
| 3 | 生物。环境。科学。2005年2月18日：31-5 |
| PMID | 15861775 |
| Title | 搜索ing for a schizophrenia susceptibility gene in the 22q11 region. |
| 抽象的 | 调查遗传关联的精神分裂症within chromosome 22q11 in a Chinese Han population. 基于PCR的限制性片段长度多态性（PCR-RFLP）分析用于检测三个单核苷酸多态性（SNP），RS165655（A/G碱基变化）和RS165815（C/T基础变化）ARVCF（速食中心综合征中的armadillo重复基因缺失）基因座，LOC128979中的RS756656（A/C基本变化）（表达序列标签，EST）基因座，在100个中国家庭中，由父亲，母亲和受影响的后代组成。精神分裂症。Genotype data were analyzed by using linkage disequilibrium (LD) methods including haplotype relative risk (HRR) analysis, transmission disequilibrium test (TDT) and haplotype transmission analysis. The genotype frequency distributions of three SNPs were all in Hardy-Weinberg equilibrium (P>0.05). Both the HRR and the TDT analysis showed that rs165815 was associated with精神分裂症(chi2=6.447, df=1, P=0.011 and chi2=6.313, df=1, P=0.012, respectively), whereas the other two SNPs did not show any allelic association. The haplotype transmission analysis showed a biased transmission for the rs165655-rs165815 haplotype system (chi2=17.224, df=3, P=0.0006) and for the rs756656-rs165655-rs165815 hapoltype system (chi2=20.965, df=7, P=0.0038). 要么ARVCF基因本身或附近的基因座可能会赋予对精神分裂症in a Chinese Han population. |
| SCZ Keywords | 精神分裂症 |
| 4 | Mol. Psychiatry 2005 Apr 10: 353-65 |
| PMID | 15340358 |
| Title | 跨越22q11.21基因和精神分裂症的ARVCF的单倍型关联。 |
| 抽象的 | Catechol-O-methyltransferase (COMT) has been implicated in精神分裂症by its function through its roles in monoamine neurotransmitter metabolism and its impact on prefrontal cognition, and also by its position through linkage scans and a strong cytogenetic association. Further support comes from association studies, especially family-based ones examining the COMT variant, Val(108/158)Met. We have studied eight markers spanning COMT and including portions of the two immediately adjacent genes, thioredoxin reductase 2 and armadillo repeat deleted in velocardiofacial syndrome (ARVCF), using association testing in 136精神分裂症families. We found nominal evidence for association of illness to rs165849 (P=0.051) inARVCF，以及来自三标记单倍型的较强信号（全局p = 0.0019-0.0036），涵盖COMT的3'部分ARVCF，包括Val（108/158）与Val（108/158）遇到过度转移等位基因，这与先前的研究一致。我们还发现Val（108/158）达到了与标记中的连锁不平衡ARVCF。这些发现支持以前的关联信号精神分裂症要加入标记，并建议ARVCF可能会导致此信号。ARVCF, a member of the catenin family, besides being a positional candidate, is also one due to its function, that is, its potential role in neurodevelopment, which is implicated in精神分裂症发病机理通过几条证据。 |
| SCZ Keywords | 精神分裂症 |
| 5 | Am J Psychiatry 2008 Apr 165：497-506 |
| PMID | 18198266 |
| Title | No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. |
| 抽象的 | The authors carried out a genetic association study of 14精神分裂症candidate genes (RGS4, DISC1, DTNBP1, STX7, TAAR6, PPP3CC, NRG1, DRD2, HTR2A, DAOA, AKT1, CHRNA7, COMT, andARVCF）。这项研究检验了关联的假设精神分裂症这些基因中常见的单核苷酸多态性（SNP）使用迄今为止最大的样品，这些样品已采用均匀的临床方法和每个基因中最全面的SNP集收集。 The sample included 1,870 cases (精神分裂症and schizoaffective disorder) and 2,002 screened comparison subjects (i.e. controls), all of European ancestry, with ancestral outliers excluded based on analysis of ancestry-informative markers. The authors genotyped 789 SNPs, including tags for most common SNPs in each gene, SNPs previously reported as associated, and SNPs located in functional domains of genes such as promoters, coding exons (including nonsynonymous SNPs), 3' untranslated regions, and conserved noncoding sequences. After extensive data cleaning, 648 SNPs were analyzed for association of single SNPs and of haplotypes. Neither experiment-wide nor gene-wide statistical significance was observed in the primary single-SNP analyses or in secondary analyses of haplotypes or of imputed genotypes for additional common HapMap SNPs. Results in SNPs previously reported as associated with精神分裂症与偶然的预期一致，COMT，DRD2和HTR2A中的四个功能多态性并未提供名义上的重要证据来支持以前的关联证据。 这些基因中的常见SNP不太可能占很大比例的遗传风险精神分裂症，尽管不能排除小效果。 |
| SCZ Keywords | 精神分裂症 |
| 6 | Prog. Neuropsychopharmacol. Biol. Psychiatry 2009 Aug 33: 1064-9 |
| PMID | 19508883 |
| Title | ARVCF single marker and haplotypic association with schizophrenia. |
| 抽象的 | 我们提出一个精神分裂症association study using an extensive linkage disequilibrium (LD) mapping approach in seven candidate genes with a well established link to dopamine, including receptors (DRD2, DRD3) and genes involved in its metabolism and transport (ACE, COMT, DAT, MAO-A, MAO-B). The sample included 242 subjects diagnosed with精神分裂症and related disorders and 373 hospital-based controls. 84 tag SNPs in candidate genes were genotyped. After extensive data cleaning 70 SNPs were analyzed for association of single markers and haplotypes. One block of four SNPs (rs165849, rs2518823, rs887199 and rs2239395) in the 3' downstream region of the COMT gene which included a non-dopaminergic candidate gene, theARVCF(Armadillo like VeloCardio Facial) gene, was associated with the risk of精神分裂症。包括ARVCFgene in the 22q11.21 chromosome is associated with精神分裂症in a Spanish series. Our results will assist in the interpretation of the controversy generated by genetic associations of COMT and精神分裂症，这可能是COMT标记和3'区域之间不同LD模式的结果ARVCF基因。 |
| SCZ Keywords | 精神分裂症 |
| 7 | Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010 Jul 153B: 1052-9 |
| PMID | 20333729 |
| Title | A functional variant provided further evidence for the association of ARVCF with schizophrenia. |
| 抽象的 | 在先前的连锁不平衡映射研究中，在3'的末端ARVCF, we identified one intronic SNP rs165849 and one haplotype block associated with精神分裂症and related disorders. The aim of the present study was to explore whether functional genetic variants in the exonic regions ofARVCF该单倍型块中包括在观察到的关联。为了实现这一目标（1），该单倍型块中包含的九个外显子在一组242例患者中重新计算精神分裂症和相关疾病(案例1)。snp标识符d were genotyped in a hospital-based control group of 373 subjects (Control 1) and an association study was performed. (2) The SNPs showing significant association in this analysis were genotyped in a new group of 102 patients with精神分裂症和相关疾病（病例2）和新组111名健康受试者（对照2）。当九个外显子的九个外显子确定ARVCF被重新计算。RS165815与精神分裂症和相关疾病（纯合子CC OR = 3.39，置换p值= 0.02）。当合并病例（1和2）和对照组（1和2）时，分析证实了观察到的关联（纯合子CC或= 3.25置换的P值= 0.02）。鉴于ARVCF在神经发育假说中提出的结果进一步支持了以下观点：22染色体包含一个敏感性基因，可能ARVCF。The functional variant rs165815, which affects a critical region ofARVCF，是与发展风险相关的遗传变异性的可观来源精神分裂症。 |
| SCZ Keywords | 精神分裂症 |
| 8 | J临床精神病学2012年3月73日：320-6 |
| PMID | 22053977 |
| Title | ARVCF遗传对中国精神分裂症患者的神经认知和神经解剖学中间表型的影响。 |
| 抽象的 | There are notable similarities between velocardiofacial syndrome and精神分裂症就神经认知缺陷和大脑结构异常而言。这些相似性支持在速食中综合征中删除的腋窝重复基因的作用（ARVCF) as a susceptibility gene in精神分裂症。这项研究调查了单倍型之间的关系ARVCFgene and specific intermediate phenotypes in精神分裂症。我们假设了这一点ARVCFgene haplotypes influence caudate nucleus volume, fractional anisotropy, and neurocognitive functioning in精神分裂症。 Between May 2006 and November 2009, 200 Chinese participants (125 patients with DSM-IV diagnosis of精神分裂症使用血液样本和166名参与者的子集（99例DSM-IV诊断患者诊断为诊断精神分裂症and 67 controls) underwent structural magnetic resonance imaging, diffusion tensor imaging, and completed neuropsychological testing. The haplotype T-G-A-T-T-G-G-C-T-G-T (ARVCF-Hap1) was significantly associated with fractional anisotropy of the caudate nucleus and executive functioning in patients. Specifically, patients with more copies ofARVCF-hap1在尾状核中具有较低的白质完整性（p = .0008），而威斯康星州卡片排序测试中的持久性误差（p = .00003）。较低的尾状体积（p = .015）的趋势，有更多副本的ARVCF-Hap1 was also observed. 这些研究结果是一致的ARVCFgene effects on neurodevelopment in terms of cellular arrangement, migration, and intracellular signaling involving the striatum and may involve interactions with other brain networks such as prefrontal cortex, and they underscore the importance of imaging-genetic studies to elucidate the genetic influences underlying intermediate phenotypes in complex neurobehavioral disorders. |
| SCZ Keywords | 精神分裂症 |
| 9 | 儿科2014年6月133日：E1655-63 |
| PMID | 24819575 |
| Title | Common genetic variants and risk of brain injury after preterm birth. |
| 抽象的 | The role of heritable factors in determining the common neurologic deficits seen after preterm birth is unknown, but the characteristic phenotype of neurocognitive, neuroanatomical, and growth abnormalities allows principled selection of candidate genes to test the hypothesis that common genetic variation modulates the risk for brain injury. We collected an MRI-linked genomic DNA library from 83 preterm infants and genotyped tag single nucleotide polymorphisms in 13 relevant candidate genes. We used tract-based spatial statistics and deformation-based morphometry to examine the risks conferred by carriage of particular alleles at tag single nucleotide polymorphisms in a restricted number of genes and related these to the preterm cerebral endophenotype. Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF）基因，与神经元迁移和精神分裂症, and rs174576 in the fatty acid desaturase 2 gene, which encodes a rate-limiting enzyme for endogenous long chain polyunsaturated fatty acid synthesis and has been linked to intelligence, was associated with white matter abnormality measured in vivo using diffusion tensor imaging (P = .0009 and P = .0019, respectively). 这些结果表明，遗传变异体在早产后调节白质损伤，并且在以后的生活中对神经系统状况的已知敏感性可能会因过早暴露于外素环境的压力而暴露。 |
| SCZ Keywords | 精神分裂症 |