Common variation at 10p12.31 near MLLT10 influences meningioma risk

To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development.     

空中的重像

如果你在70年代初碰到卜索柯洛夫（DmitrySokoloff），问他在做什么，你就会以为他的神经出了毛病。那时索柯洛夫正在筛选遥远星系的编目，想从中找到我们自己的星系。他要从那个星系里寻找我们所在的地方——不过那是属于过去久远的年代的：在这个相距大约数十亿光年的星系的重像里，有一个叫地球的行星，行星上的人类生命最终会进化；两次世界战争会殃及全球；据说一个神话中的预言家诞生lpes年之后，一个叫法兰西的国家会赢得足球世界杯。索柯洛夫一直没有找到年轻时代的银河像。但是年轻银河像的观念并不像它听起来那样远不可及。从本…     

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.     

Thermolysis of fluoropolymers as a potential source of halogenated organic acids in the environment.

Following the introduction of hydrochlorofluorocarbon (HCFCs) and hydrofluorocarbon (HFCs) gases as replacements for the ozone-destroying chlorofluorocarbons (CFCs), it has been discovered that HCFCs/HFCs can degrade in the atmosphere to produce trifluoroacetic acid, a compound with no known loss mechanisms in the environment, and higher concentrations in natural waters have been shown to be mildly phytotoxic. Present environmental levels of trifluooracetic acid are not accounted by HCFC/HFC degradation alone. Here we report that thermolysis of fluorinated polymers, such as the commercial polymers Teflon and Kel-F, can also produce trifluoroacetate and the similar compound chlorodifluoroacetate. This can occur either directly, or indirectly via products that are known to degrade to these haloacetates in the atmosphere. The environmental significance of these findings is confirmed by modelling, which indicates that the thermolysis of fluoropolymers in industrial and consumer high-temperature applications (ovens, non-stick cooking utensils and combustion engines) is likely to be a significant source of trifluoroacetate in urban rain water ( approximately 25 ng l-1, as estimated for Toronto). Thermolysis also leads to longer chain polyfluoro- and/or polychlorofluoro- (C3-C14) carboxylic acids which may be equally persistent. Some of these products have recently been linked with possible adverse health and environmental impacts and are being phased out of the US market. Furthermore, we detected CFCs and fluorocarbons-groups that can destroy ozone and act as greenhouse gases, respectively-among the other thermal degradation products, suggesting that continued use of fluoropolymers may also exacerbate stratospheric ozone-depletion and global warming.     

No linkage of chromosome 5q11-q13 markers to schizophrenia in Scottish families

Recent work suggests that an autosomal dominant gene for schizophrenia may be located on the 5q11-q13 region of chromosome 5 (refs 1 and 2): a report of schizophrenia associated with trisomy 5q11-q13 in two members of a family of Chinese origin prompted the discovery of linkage with markers p105-599Ha and p105-153Ra in five Icelandic and two English schizophrenic families. The strongest linkage was observed when the phenotype was broadly defined to include minor psychiatric diagnoses not traditionally considered part of the schizophrenia spectrum. By contrast, no evidence was found of linkage in a single multiplex Swedish schizophrenic pedigree. To determine whether these conflicting results arise from genetic and/or uncertainties in defining the schizophrenic phenotype, we examined fifteen Scottish schizophrenic families with restriction fragment length polymorphisms that span this region. We found no evidence for linkage, regardless of how broadly or narrowly the schizophrenic phenotype is defined, and conclude that a susceptibility locus, whose presence awaits confirmation, on the proximal portion of the long arm of chromosome 5 can be responsible for only a minority of cases of familial schizophrenia.     

Direct enzyme transfer from lymphocytes is specific

Lymphocytes are known to interact directly with other cells in vivo and in vitro, and have recently been shown to transfer the lysosomal enzyme, beta-glucuronidase, to fibroblasts from patients with an inherited deficiency of the enzyme. This process requires cell-cell contact, is unaffected by inhibitors of 'classical' receptor-mediated endocytosis and is abolished by inhibitors of protein synthesis. Although it is not yet known to what extent the transfer of enzymes by direct cellular interaction is a general phenomenon, a similar mechanism could possibly be involved in the transfer of other lysosomal enzymes in vivo and in the exchange of protein in vitro. We show here that the direct transfer of enzymes from lymphocytes to fibroblasts is restricted to only certain lysosomal enzymes.