A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis

To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.     

The genome of the extremophile crucifer Thellungiella parvula

Thellungiella parvula is related to Arabidopsis thaliana and is endemic to saline, resource-poor habitats, making it a model for the evolution of plant adaptation to extreme environments. Here we present the draft genome for this extremophile species. Exclusively by next generation sequencing, we obtained the de novo assembled genome in 1,496 gap-free contigs, closely approximating the estimated genome size of 140 Mb. We anchored these contigs to seven pseudo chromosomes without the use of maps. We show that short reads can be assembled to a near-complete chromosome level for a eukaryotic species lacking prior genetic information. The sequence identifies a number of tandem duplications that, by the nature of the duplicated genes, suggest a possible basis for T. parvula's extremophile lifestyle. Our results provide essential background for developing genomically influenced testable hypotheses for the evolution of environmental stress tolerance.     

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.     

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

We report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at TMCO1 (rs4656461[G] odds ratio (OR) = 1.68, P = 6.1 × 10(-10)) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 × 10(-9)). We replicated these associations in an independent cohort of cases with advanced OAG (rs4656461 P = 0.010; rs4977756 P = 0.042) and two additional cohorts of less severe OAG (rs4656461 combined discovery and replication P = 6.00 × 10(-14), OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 × 10(-14), OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma.     

耗能连梁采用新型复合阻尼器后对剪力墙结构性能的影响

研究一种震后可替换的新型复合阻尼器置于连梁跨中以实现保护连梁并提高连梁耗能能力的目标.在ABAQUS有限元软件平台上根据复合阻尼器的特点提出一种可以有效反映其特征的等效简化模型,并与仿真模型进行对比验证;将等效简化模型应用于高层剪力墙结构的连梁中,进行罕遇地震下的剪力墙结构动力时程分析;以混凝土连梁为参照,研究安装了复...     

处理频率对TC4钛合金微弧氧化膜特性的影响

利用自制多功能微弧氧化膜的制备系统对TC4钛合金进行表面处理, 通过扫描电镜(SEM)和X射线衍射仪(XRD)研究脉冲频率(f)对氧化膜生长特性、 表面形貌和相组成的影响. 结果表明, 当f≤2 000 Hz时, 成膜速率随f增加迅速减小; 当2 000 Hz＜f＜4 000 Hz时, 成膜速率随f增加而减小的趋势变缓; 当f≥4 000 Hz时, 成膜速率不随f发生变化. 该氧化膜表面多孔, 随f的增加, 膜表面微孔尺寸逐渐减少, 微孔密度逐渐增加. 膜层主要由锐钛矿和金红石相TiO2及少量不饱和氧化物TiO2-x（0.02＜x＜0.07）相组成, 其中锐钛矿和金红石相TiO₂的相对含量随f的变化不明显, 而TiO_2-x的相对含量当f≤2 000 Hz时较高, 当f＞2 000 Hz时, TiO_2-x的相含量明显减少.      

贵阳市城乡中小学学校体育发展现状的比较研究

运用调查访问,文献资料和数理统计等方法,对贵阳市城乡学校体育的发展现状进行调查研究,指出贵阳市城乡学校体育中存在的不足,并提出改进建议。     

运动气泡近界面上颗粒速度分布的理论分析和实验测量

利用边界层理论和近似分析方法,从流体在界面上的边界层分离问题入手,推导了非定常流动情况下运动气泡近界面附近颗粒的速度分布,其与由数字相关图象处理技术进行的颗粒成像测速所得的实验测量结果比较吻合。     

光声光谱技术中斩光频率对光声信号影响的研究

利用低温光声光谱检测系统,对相对光声信号幅值随斩波器斩光频率的变化进行研究分析,同时,对低温情况下(液氮)两者间的关系也进行探索。     

蓄电池在线监测系统的设计

应急备用电源的需求正在成不断上升的趋势,阀控式铅酸蓄电池以其优良的性能更是被广泛应用,由此引发了对蓄电池状态监测的迫切需求.基于对采用40节12 V、30 A时蓄电池串联供电的应急电源系统中对蓄电池巡检部分的实现.系统实现了对蓄电池状态实时在线监测、实时显示,对故障电池进行声光报警;通过串口实时与上位机通信,传送各蓄电池的数据,同时通过上位机数据库实现数据的查询.该研究有效地保证了应急电源系统的安全可靠运行,提高了蓄电池的使用寿命和效率,对蓄电池维护工作具有积极作用.