Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P?相似文献   

金属有机化学气相沉积薄膜制备中传热传质的数值模拟

建立水平式GaAs的金属有机化学气相沉积(metal-organic chemical vapor deposition,MOCVD)数学模型, 采用求解压力耦合方程的半隐式(SIMPLE)算法对反应气体流动进行二维数值模拟, 并基于边界层动量、热量与扩散传质的相关理论分析了薄膜制备过程中化学组分的输运, 以及反应前驱物与气相之间的传热过程. 计算所得的GaAs生长速率与实验结果吻合较好. 同时, 数值讨论了反应器进气流量、操作压力以及基底温度对GaAs生长速率的影响. 薄膜生长的速率峰值随入口气体速度的升高而有所增大, 但薄膜生长逐渐趋于不均匀性. 因此, 选取气流速度为0.104 m/s. 薄膜生长速率随着操作压力的增大而增大, 当压力为6 kPa时, GaAs生长速率较压力为2 kPa时提高了223%, 薄膜具有较好的生长速率和均匀性.基底温度对薄膜生长速率影响显著, 在1 050 K时薄膜有良好的生长速率和均匀性, GaAs生长速率比温度为950 K时提高了123%. 研究结果为优化MOCVD反应条件及其反应器的结构设计提供了理论依据.     

Jodidwirksamkeit auf den Wassergchalt des Lig. nuchae des Rindes als Folge anionischer Abschirmung positiver Ladungsstellen am Strukturprotein

Summary Taking the effect of NaCl as a basis, isomolar NaJ leads either to swelling or shrinking of elastic tissue dependent on salt concentration and pH of the aqueous medium. Close to the isoelectric point, the effect turns in the opposite direction. Corresponding to Hofmeister's lyotropic series, the same inversion also applies to the other monovalent anions measured at pH 7 and 2.

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Herrn Professor Dr. Dr.Th. Leipert zum 70. Geburtstag gewidmet.     

具有高代数免疫阶布尔函数的构造

在探讨密码学中布尔函数性质的基础上，提出了一个具有高代数免疫阶布尔函数的构造方法，利用这种方法可以构造出一类具有高代数免疫阶的布尔函数，并给出了一个实例。     

广西崇左江州木榄山智人洞古人类遗址及其地质时代

关于现代智人起源的争论一直是国际古人类学研究的前沿与热点. 最近, 在广西崇左木榄山智人洞发现了具有现代人解剖特征初始状态的人类下颌骨化石及大量与之共生的哺乳动物化石. 木榄山智人洞哺乳动物群以江南象与初现的亚洲象及巨獏等组合为其特征, 截然不同于华南早更新世的巨猿动物群和中更新世的大熊猫-剑齿象动物群, 是典型亚洲象动物群的早期代表. 依动物群性质、地层对比及铀系年代测定木榄山化石智人和伴生的哺乳动物群的时代为距今约11万年的晚更新世早期. 该动物群主要由热带-亚热带型动物组成, 但木榄山动物群中森林型动物种类单调, 草地类型的动物相当多, 这表明当时的气候可能比以前干燥. 木榄山智人的发现对研究现代人起源及其环境背景具有非常重要的意义.     

青藏高原现代食草动物牙齿珐琅质稳定同位素特征及古高度重建意义

食草动物牙齿珐琅质具有非常强的抗成岩改造特征, 被认为是研究生态环境变化和重建古高度的理想载体之一. 对青藏高原腹地现代食草动物(牦牛、藏野驴、藏羚羊)牙齿珐琅质的稳定同位素进行了分析, 拉萨地块和羌塘南部地区食草动物牙齿珐琅质δ¹³C(PDB)平均值为－11.3‰ ± 1.1‰, 羌塘北部和可可西里地区为－10.2‰ ± 1.4‰, 与高原以C3植物为主的植被景观是一致的; δ¹⁸O(PDB)值也同样表现出从南向北逐渐升高的趋势, 喜马拉雅山地区吉隆盆地平均值最低, 为－11.8‰ ± 3.4‰, 拉萨地块和羌塘南部地区平均值为－11.1‰ ± 1.1‰, 羌塘北部和可可西里地区最高, 为－9.0‰ ± 1.1‰. 食草动物牙齿珐琅质氧同位素是河水(或降水)与食物(植物)氧同位素的混合, 不适合直接用来进行高度预测. 建立了高原现代食草动物牙齿珐琅质氧同位素对降水、植被及高度的响应关系, 为利用食草动物牙齿化石氧同位素重建青藏高原古高度提供了依据.     

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10?? to P = 1.8 × 10???) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10?3 to P = 1.2 × 10?13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.     

陆地棉红株基因(R1)的精细定位

利用陆地棉遗传背景的海岛棉染色体16置换系材料Sub16和陆地棉多基因标记系T586创建了含1259个单株的F₂作图群体, 结合本实验室最新的栽培四倍体棉种种间分子遗传图谱上染色体16的标记信息, 利用分子标记技术, 对红株基因R₁进行精细定位. 在F₂分离群体中, 红株性状分离比符合孟德尔1:2:1的分离, 进一步证明该性状是由一不完全显性单基因控制. 利用JoinMap 3.0连锁分析软件, 使用含237个单株的F₂小群体完成红株基因R₁的初级定位, 进一步利用含1259个单株的F₂大群体将该基因精细定位在NAU4956和NAU6752之间, 与最近标记的遗传距离为0.49 cM. 研究结果为进一步克隆该基因及培育红色彩棉转基因品种提供了研究基础.     

Radioactive 26Al from massive stars in the Galaxy

Gamma-rays from radioactive 26Al (half-life approximately 7.2 x 10(5) years) provide a 'snapshot' view of continuing nucleosynthesis in the Galaxy. The Galaxy is relatively transparent to such gamma-rays, and emission has been found concentrated along its plane. This led to the conclusion that massive stars throughout the Galaxy dominate the production of 26Al. On the other hand, meteoritic data show evidence for locally produced 26Al, perhaps from spallation reactions in the protosolar disk. Furthermore, prominent gamma-ray emission from the Cygnus region suggests that a substantial fraction of Galactic 26Al could originate in localized star-forming regions. Here we report high spectral resolution measurements of 26Al emission at 1808.65 keV, which demonstrate that the 26Al source regions corotate with the Galaxy, supporting its Galaxy-wide origin. We determine a present-day equilibrium mass of 2.8 (+/- 0.8) solar masses of 26Al. We use this to determine that the frequency of core collapse (that is, type Ib/c and type II) supernovae is 1.9 (+/- 1.1) events per century.