Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease.     

A lost chapter in the pre-history of algebraic analysis: Whittaker on contact transformations

In the early 1930s W. O. Kermack and W. H. McCrea published three papers in which they attempted to prove a result of E. T. Whittaker on the solution of differential equations. In modern parlance, their key idea consisted in using quantized contact transformations over an algebra of differential operators. Although their papers do not seem to have had any impact, either then or at any later time, the same ideas were independently developed in the 1960–1980s in the framework of the theory of modules over rings of microdifferential operators. In this paper we describe the results of Kermack and McCrea and discuss possible reasons why such promising papers had no impact on the mathematics of the twentieth century.     

Historical and other considerations regarding the crystal form of sodium-ammonium d- and l-tartrate,potassium d- and l-tartrate,potassium-ammonium d- and l-tartrate,and potassium racemate.—II

In 1914, the physics discipline had reached a very similar stage of development in Australia and Japan. A generation later the paths of development had considerably diverged. A systematic comparison of the evolution of physics in the two countries during these years identifies factors—political, economic and cultural—that led to this divergence, but it also uncovers a number of underlying parallels.     

好氧颗粒污泥的研究

好氧颗粒污泥是一种全新概念的污水生物处理技术。介绍了好氧颗粒污泥技术的理论基础,包括好氧污泥形成机理及理化特性研究,探讨了影响好氧颗粒污泥形成的因素以及工业应用的方向和前景。     

Effect of scorpion venom fromTityus serrulatus (Tityustoxin) on the acetylcholine release and fine structure of the nerve terminals

Zusammenfassung Nachweis, dass ein Giftstoff des südamerikanischen SkorpionsTityus serrulatus auch in vitro am isolierten Meerschweinchendarm zu stark erhöhtem Acetylcholinausstoss führt der bei Kalziumentzug und Blockade des Natriumeinstroms durch Tetrodotoxin blockiert werden kann. Elektronenoptisch sind im Mäusezwerchfellpräparat nur im präsynaptischen Gebiet pathologische Veränderungen zu sehen.

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This work was supported by a grant (Biol. No. 72/134) of the State of São Paulo Research Foundation.     

Whittaker’s analytical dynamics: a biography

Originally published in 1904, Whittaker’s A Treatise on the Analytical Dynamics of Particles and Rigid Bodies soon became a classic of the subject and has remained in print for most of these 108 years. In this paper, we follow the book as it develops from a report that Whittaker wrote for the British Society for the Advancement of Science to its influence on Dirac’s version of quantum mechanics in the 1920s and beyond.