Uppsala University

About: Uppsala University is a education organization based out in Uppsala, Sweden. It is known for research contribution in the topics: Population & Gene. The organization has 36485 authors who have published 107509 publications receiving 4220668 citations. The organization is also known as: Uppsala universitet & uu.se.

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Abstract: The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.

The Exoplanet Orbit Database

Abstract: We present a database of well-determined orbital parameters of exoplanets, and their host stars’ properties. This database comprises spectroscopic orbital elements measured for 427 planets orbiting 363 stars from radial velocity and transit measurements as reported in the literature. We have also compiled fundamental transit parameters, stellar parameters, and the method used for the planets discovery. This Exoplanet Orbit Database includes all planets with robust, well measured orbital parameters reported in peer-reviewed articles. The database is available in a searchable, filterable, and sortable form online through the Exoplanets Data Explorer table, and the data can be plotted and explored through the Exoplanet Data Explorer plotter. We use the Data Explorer to generate publication-ready plots, giving three examples of the signatures of exoplanet migration and dynamical evolution: We illustrate the character of the apparent correlation between mass and period in exoplanet orbits, the different selection biases between radial velocity and transit surveys, and that the multiplanet systems show a distinct semimajor-axis distribution from apparently singleton systems.

Insulin resistance is a characteristic feature of primary hypertension independent of obesity.

Abstract: The relationship between abnormalities in carbohydrate metabolism and hypertension was studied in 143 newly detected hypertensive patients (59% obese) of both sexes (90 males, 53 females) and compared with 51 normotensive controls. Insulin-mediated glucose disposal assessed with the euglycemic insulin clamp technique was significantly decreased in both non-obese (7.2 ± 2.1 mg/kg/min; P < .05) and obese hypertensives (5.1 ± 2.1 mg/kg/min; P < .01) compared with the controls (8.4 ± 1.8 mg/kg/min). The decrease in insulin sensitivity and increase in basal insulin as well as a decreased rate of glucose disposal after an intravenous glucose tolerance test (IVGTT) were verified also after statistical adjustment for sex, age, body mass index, and waist-hip ratio. The insulin index (ratio between peak and basal insulin) during IVGTT was significantly decreased in the hypertensive patients (P < .001). After the statistical adjustment for the factors mentioned the following lipid abnormalities were still significant: total cholesterol (6.25 ± 1.12 mmol/L non-obese; 6.06 ± 1.20 mmol/L obese; 5.41 ± 1.02 mmol/L controls), triglycerides (1.70 ± 0.74 mmol/L nonobese; 2.26 ± 1.13 mmol/L obese; 1.24 ± 0.53 mmol/L controls) and free fatty acids (0.57 ± 0.20 mmol/L nonobese; 0.59 ± 0.20 mmol/L obese; 0.48 ± 0.15 mmol/L controls). This study shows that after correction for a series of probable confounding variables, hypertension emerges as part of a syndrome characterized by major abnormalities of carbohydrate, and lipid metabolism, which independently or in concert may act as important risk factors for cardiovascular disease.