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.     

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.     

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder.     

The effects of cholinergic drugs on the motility of the alimentary canal ofBlennius pholis L.

Résumé Les effets des cholinesters sur les mouvements spontanés du tractus alimentaire sont étudiés sur des poissons intacts. L'acétylcholine et la métacholine sont sans effets. Par ailleurs, une concentration de 0,05 mg/kg de carbachol produit un accroissement du mouvement spontané. Des concentrations de 3 et 5 mg/kg d'atropine inhibe le mouvement.     

国学的术语规范问题

国学的术语规范指的是国学所属各学科的术语规范。国学术语的规范既是术语学和国学的研究对象,也是语言规划的重要内容,同时它还是建设有中国特色术语学的重要组成部分。文章从国学术语的概念划分、科学定义、术语定名和译介等方面对国学的术语规范问题作了系统阐述。     

人工关节材料及其表面改性研究进展

人工关节是替代病变或损伤关节的植入性假体,除了应满足生物相容性要求外,必须具备足够的抗磨损能力。本文综述了目前使用的不同人工关节材料的性能,以及为提高抗磨损能力而对各种材料进行改性处理的新方法,提出在人工关节表面加工微纳结构来提高其抗磨损性能和生物相容性的新思路。     

基于小波与BP神经网络的太阳黑子时间序列分析预测

太阳黑子年平均数序列是典型的非线性、复杂时间序列.本文利用小波变换,将太阳黑子年平均数序列进行分解重构,对信号的周期特性进行分析,然后采用BP神经网络对重构信号进行预测,建立太阳黑子年平均数的预测序列.结果表明,该模型具有较高的预测精度.     

山西省R＆D经费投入状况分析

通过对山西省R&D经费投入状况的分析,指出了其不足与存在的问题,并进一步提出应加大山西省R&D经费投入力度,使R&D活动真正成为促进山西省经济发展的主要动力。