Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to schizophrenia is captured by SNPs. We show that a substantial proportion of this variation must be the result of common causal variants, that the variance explained by each chromosome is linearly related to its length (r = 0.89, P = 2.6 × 10(-8)), that the genetic basis of schizophrenia is the same in males and females, and that a disproportionate proportion of variation is attributable to a set of 2,725 genes expressed in the central nervous system (CNS; P = 7.6 × 10(-8)). These results are consistent with a polygenic genetic architecture and imply more individual SNP associations will be detected for this disease as sample size increases.     

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis summary data from the GIANT Consortium for height and body mass index (BMI), with the LD structure estimated from genotype data in two independent cohorts. We identified 36 loci with multiple associated variants for height (38 leading and 49 additional SNPs, 87 in total) via a genome-wide SNP selection procedure. The 49 new SNPs explain approximately 1.3% of variance, nearly doubling the heritability explained at the 36 loci. We did not find any locus showing multiple associated SNPs for BMI. The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium.     

2010年1月中国直销企业影响力榜

新的一年,改版后的中国直销企业影响力榜重装登场。榜单评分细则在广泛听取意见之后几经修改,终于亮相。透明和公正,是世界直销(中国)研究中心坚持的原则和方向。     

模型找矿在相山矿田山南矿区接替资源勘查中的应用

山南矿区横涧、岗上英、石马山矿床历经40余年开采,资源严重危机,急需开展接替资源勘查.在深化矿区铀成矿地质特征、关键成矿要素及铀矿化定位规律认识的基础上,认为矿区内三个铀矿床均可归属为斑岩型铀矿床,据此明确了接替资源勘查找矿目标及技术思路.基于相似类比和地质异常理论,通过攻深找盲物化探技术,提取了各类铀成矿信息,对矿区...     

西湖区：打造创新硅谷 推动区域经济发展

基本思路 2009年科技进步工作要实现三大战略转移：服务对象上，要从以传统制造业为代表的工业经济向以电子信息为代表的现代服务业转移；产业扶持上，要从高技术产业为主向文化创意产业为主转移；综合服务上，要从政策扶持、项目管理向配套服务、综合竞争力提升转移。     

2013-18 封面图片说明:便携式或可移植的生物人工肾透析膜材料——TiO2纳米管阵列生物透析膜

 近年来,肾脏疾病的发病率及死亡率在全球呈现出快速增长的趋势.肾脏移植因供体器官太少而极大受限.事实上,传统的血液透析至今仍是一种成功的维持性替代治疗方式.但常规血透治疗需要患者频繁进入专门医院接受费用高昂的治疗,既冗长又痛苦的过程使患者不堪重负,严重影响了患者的正常生活,发病率和死亡率依旧很高.发展微型化、可携带或可移植的生物人工肾已成为未来的发展方向.此外,现今透析技术仍局限于体外肾小球滤过功能的替代,体外对肾小管生理功能的替代仍是空白.已有报道认为目前透析病人并发症的出现及高死亡率与忽视肾小管生理功能的替代直接相关.基于此,1999年美国Humes等提出利用细胞组织工程构建生物人工肾小管辅助装置（RAD）的思想并进行体外实验,初步确定其具有肾小管的部分生理功能.但RAD的引入需要将血液滤过装置和RAD组成复杂的串联回路,结构较复杂,不利于生物人工肾的“微缩化”和体内移植.因此,探索结构小巧、适合携带或移植条件且同时具有肾小球和肾小管复合功能的新型生物人工肾仍是今后发展的主要任务.     

基于动态查询和报表创建的海南锆钛砂矿系统

阐述了海南岛近岸浅海锆钛砂矿数据库系统的设计与实现过程,提出了一种动态查询的方法和一种动态报表的创建方法,并在系统中给以实现.结果表明:该方法具有较高的可行性,能更好的满足用户需求.     

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.