12 research outputs found
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways
Prognosis of shoulder pain in those with and without a psychological disorder:A prospective cohort study with a six-month follow-up
BACKGROUND: Because shoulder pain can have an unfavorable prognosis, it is important to have a better understanding of factors that may influence recovery. OBJECTIVE: To determine the association between recovery from shoulder pain and the presence of depression, anxiety, and pain catastrophizing. METHODS: In a prospective cohort study with a six months follow-up, we included patients visiting an orthopaedic department with shoulder pain. Primary outcome was recovery from shoulder pain measured with the Shoulder Pain and Disability Index at three and six months. Information about depression and anxiety (Hospital Anxiety and Depression Scale), pain catastrophizing (Pain Catastrophizing Scale), and demographic and clinical factors were collected at baseline. A linear mixed model was used to estimate the effects of depression, anxiety, pain catastrophizing, and underlying shoulder disorders on recovery. RESULTS: We included 190 patients. There were no statistically significant associations between the presence of depression, anxiety, and pain catastrophizing, and three- and six-month recovery. Also between the underlying shoulder disorders and recovery at three and six months, there were no statistically significant associations. CONCLUSIONS: We could not prove that depression, anxiety, and pain catastrophizing, as well as underlying shoulder disorders, were associated with recovery of shoulder pain at six months
SN 2018agk: a prototypical type Ia supernova with a smooth power-law rise in kepler (K2)
We present the 30 minutes cadence Kepler/K2 light curve of the Type Ia supernova (SN Ia) SN 2018agk, covering approximately one week before explosion, the full rise phase, and the decline until 40 days after peak. We additionally present ground-based observations in multiple bands within the same time range, including the 1 day cadence DECam observations within the first ∼5 days after the first light. The Kepler early light curve is fully consistent with a single power-law rise, without evidence of any bump feature. We compare SN 2018agk with a sample of other SNe Ia without early excess flux from the literature. We find that SNe Ia without excess flux have slowly evolving early colors in a narrow range (g − i ≈ −0.20 ± 0.20 mag) within the first ∼10 days. On the other hand, among SNe Ia detected with excess, SN 2017cbv and SN 2018oh tend to be bluer, while iPTF16abc's evolution is similar to normal SNe Ia without excess in g − i. We further compare the Kepler light curve of SN 2018agk with companion-interaction models, and rule out the existence of a typical nondegenerate companion undergoing Roche lobe overflow at viewing angles smaller than 45°
SN 2018agk:a prototypical type Ia supernova with a smooth power-law rise in Kepler (K2)
We present the 30-min cadence Kepler/K2 light curve of the Type Ia supernova
(SN Ia) SN 2018agk, covering approximately one week before explosion, the full
rise phase and the decline until 40 days after peak. We additionally present
ground-based observations in multiple bands within the same time range,
including the 1-day cadence DECam observations within the first 5 days
after the first light. The Kepler early light curve is fully consistent with a
single power-law rise, without evidence of any bump feature. We compare SN
2018agk with a sample of other SNe~Ia without early excess flux from the
literature. We find that SNe Ia without excess flux have slowly-evolving early
colors in a narrow range ( mag) within the first days. On the other hand, among SNe Ia detected with excess, SN 2017cbv and
SN 2018oh tend to be bluer, while iPTF16abc's evolution is similar to normal
SNe Ia without excess in . We further compare the Kepler light curve of SN
2018agk with companion-interaction models, and rule out the existence of a
typical non-degenerate companion undergoing Roche-lobe overflow at viewing
angles smaller than .Comment: 20 pages, 14 figures, 5 tables. Published in Ap
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways