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.     

A new discovery of macroscopic fossils from the Ediacaran Doushantuo Formation in the Yangtze Gorges area

The Ediacaran section in the Yangtze Gorges area, South China, is one of the most important in the worldand contains abundant fossils[1-4]. The earliest discov- ery of macrofossils in 1984, including macroscopic algal fossils from the uppermost Doushantuo…     

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.     

Change in the body temperature of healthy term infant over the first 72 hours of life

OBJECTIVE: To determine the range of body temperature in a group of healthy Chinese term neonates over the first 72 hours of life and to assess the influence of body weight, gestational age and route of delivery.METHOD: All 200 consecutive cases of neonates delivered at our hospital from March to August 2001 were included in this retrospective study. Temperatures were measured immediately after delivery, after 30 minutes, 1 hour, 2 hours, 8 hours and 15 hours and on the 2nd and 3rd day. Axillary temperatures ranging from 36.5 degrees C to 37 degrees C were regarded as normal. No cases of maternal fever or systemic infection of the newborns were discovered. All infants were discharged in good general condition. RESULTS: The mean rectal temperature at birth was 37.19 degrees C. The lowest average temperature was reached at 1 hour after delivery (36.54 degrees C) with a significant difference between natural delivery (36.48 degrees C) and section (36.59 degrees C) (P<0.05). Temperature subsequently rose to 36.70 degrees C at 8 hours and 36.78 degrees C at 15 hours (P<0.05). Hypothermia was seen in 51.8% and hypothermia in 42.5% of the patients. On the 3rd day after delivery, 96% of all temperatures were in the normal range. A significant relation was found between hypothermia and both low birth weight (P<0.001) and low gestational age (P<0.05). CONCLUSION: The reference range presently used did not include all physiological temperatures in the first 72 hours of life. Considering other factors, such as birth weight, route of delivery, gestational age and body temperature on the 2nd and 3rd day of life, may help to correctly assess the significance of temperatures beyond the reference range.     

Ocean circulation and climate during the past 120,000 years

Oceans cover more than two-thirds of our blue planet. The waters move in a global circulation system, driven by subtle density differences and transporting huge amounts of heat. Ocean circulation is thus an active and highly nonlinear player in the global climate game. Increasingly clear evidence implicates ocean circulation in abrupt and dramatic climate shifts, such as sudden temperature changes in Greenland on the order of 5-10 degrees C and massive surges of icebergs into the North Atlantic Ocean --events that have occurred repeatedly during the last glacial cycle.     

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.     

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

Serum uric acid concentrations are correlated with gout and clinical entities such as cardiovascular disease and diabetes. In the genome-wide association study KORA (Kooperative Gesundheitsforschung in der Region Augsburg) F3 500K (n = 1,644), the most significant SNPs associated with uric acid concentrations mapped within introns 4 and 6 of SLC2A9, a gene encoding a putative hexose transporter (effects: -0.23 to -0.36 mg/dl per copy of the minor allele). We replicated these findings in three independent samples from Germany (KORA S4 and SHIP (Study of Health in Pomerania)) and Austria (SAPHIR; Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk), with P values ranging from 1.2 x 10(-8) to 1.0 x 10(-32). Analysis of whole blood RNA expression profiles from a KORA F3 500K subgroup (n = 117) showed a significant association between the SLC2A9 isoform 2 and urate concentrations. The SLC2A9 genotypes also showed significant association with self-reported gout. The proportion of the variance of serum uric acid concentrations explained by genotypes was about 1.2% in men and 6% in women, and the percentage accounted for by expression levels was 3.5% in men and 15% in women.