31 research outputs found
The Angular Correlation Function of Galaxies from Early SDSS Data
The Sloan Digital Sky Survey is one of the first multicolor photometric and
spectroscopic surveys designed to measure the statistical properties of
galaxies within the local Universe. In this Letter we present some of the
initial results on the angular 2-point correlation function measured from the
early SDSS galaxy data. The form of the correlation function, over the
magnitude interval 18<r*<22, is shown to be consistent with results from
existing wide-field, photographic-based surveys and narrower CCD galaxy
surveys. On scales between 1 arcminute and 1 degree the correlation function is
well described by a power-law with an exponent of ~ -0.7. The amplitude of the
correlation function, within this angular interval, decreases with fainter
magnitudes in good agreement with analyses from existing galaxy surveys. There
is a characteristic break in the correlation function on scales of
approximately 1-2 degrees. On small scales, < 1', the SDSS correlation function
does not appear to be consistent with the power-law form fitted to the 1'<
theta <0.5 deg data. With a data set that is less than 2% of the full SDSS
survey area, we have obtained high precision measurements of the power-law
angular correlation function on angular scales 1' < theta < 1 deg, which are
robust to systematic uncertainties. Because of the limited area and the highly
correlated nature of the error covariance matrix, these initial results do not
yet provide a definitive characterization of departures from the power-law form
at smaller and larger angles. In the near future, however, the area of the SDSS
imaging survey will be sufficient to allow detailed analysis of the small and
large scale regimes, measurements of higher-order correlations, and studies of
angular clustering as a function of redshift and galaxy type
Escherichia coli O157:H7 in Feral Swine near Spinach Fields and Cattle, Central California Coast1
We investigated involvement of feral swine in contamination of agricultural fields and surface waterways with Escherichia coli O157:H7 after a nationwide outbreak traced to bagged spinach from California. Isolates from feral swine, cattle, surface water, sediment, and soil at 1 ranch were matched to the outbreak strain
Analysis of Systematic Effects and Statistical Uncertainties in Angular Clustering of Galaxies from Early SDSS Data
The angular distribution of galaxies encodes a wealth of information about
large scale structure. Ultimately, the Sloan Digital Sky Survey (SDSS) will
record the angular positions of order 10^8 galaxies in five bands, adding
significantly to the cosmological constraints. This is the first in a series of
papers analyzing a rectangular stripe 2.5x90 degrees from early SDSS data. We
present the angular correlation function for galaxies in four separate
magnitude bins on angular scales ranging from 0.003 degrees to 15 degrees. Much
of the focus of this paper is on potential systematic effects. We show that the
final galaxy catalog -- with the mask accounting for regions of poor seeing,
reddening, bright stars, etc. -- is free from external and internal systematic
effects for galaxies brighter than r* = 22. Our estimator of the angular
correlation function includes the effects of the integral constraint and the
mask. The full covariance matrix of errors in these estimates is derived using
mock catalogs with further estimates using a number of other methods.Comment: 64 pages, 31 figures, new version to match that accepted by Ap
Laser cooling of a nanomechanical oscillator into its quantum ground state
A patterned Si nanobeam is formed which supports co-localized acoustic and
optical resonances that are coupled via radiation pressure. Starting from a
bath temperature of T=20K, the 3.68GHz nanomechanical mode is cooled into its
quantum mechanical ground state utilizing optical radiation pressure. The
mechanical mode displacement fluctuations, imprinted on the transmitted cooling
laser beam, indicate that a final phonon mode occupancy of 0.85 +-0.04 is
obtained.Comment: 18 pages, 10 figure
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value OBFC1indicated the independent signals colocalized with cell-type specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated our TL polygenic trait scores (PTS) were associated with increased risk of cancer-related phenotypes
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near CLASP1, LHX1, SNTA1, and CNTNAP2, that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the CLASP1, LHX1, and SNTA1 loci and attenuate the LDL cholesterol-increasing effect of the CNTNAP2 locus. The CLASP1, LHX1, and SNTA1 regions harbor genes linked to muscle function and lipid metabolism. Our results elucidate the role of physical activity interactions in the genetic contribution to blood lipid levels
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
The present work was largely supported by a grant from the US National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (R01HL118305). The full list of acknowledgments appears in the Supplementary Notes 3 and 4.Peer reviewedPublisher PD
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
AbstractObjectiveWe sought to assess whether genetic risk factors for atrial fibrillation can explain cardioembolic stroke risk.MethodsWe evaluated genetic correlations between a prior genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously-validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors.ResultsWe observed strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson’s r=0.77 and 0.76, respectively, across SNPs with p < 4.4 × 10−4 in the prior AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio (OR) per standard deviation (sd) = 1.40, p = 1.45×10−48), explaining ∼20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per sd = 1.07, p = 0.004), but no other primary stroke subtypes (all p > 0.1).ConclusionsGenetic risk for AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.</jats:sec
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A lipidome-wide association study of the lipoprotein insulin resistance index
BackgroundThe lipoprotein insulin resistance (LPIR) score was shown to predict insulin resistance (IR) and type 2 diabetes (T2D) in healthy adults. However, the molecular basis underlying the LPIR utility for classification remains unclear.ObjectiveTo identify small molecule lipids associated with variation in the LPIR score, a weighted index of lipoproteins measured by nuclear magnetic resonance, in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study (n = 980).MethodsLinear mixed effects models were used to test the association between the LPIR score and 413 lipid species and their principal component analysis-derived groups. Significant associations were tested for replication with homeostatic model assessment-IR (HOMA-IR), a phenotype correlated with the LPIR score (r = 0.48, p < 0.001), in the Heredity and Phenotype Intervention (HAPI) Heart Study (n = 590).ResultsIn GOLDN, 319 lipids were associated with the LPIR score (false discovery rate-adjusted p-values ranging from 4.59 × 10- 161 to 49.50 × 10- 3). Factors 1 (triglycerides and diglycerides/storage lipids) and 3 (mixed lipids) were positively (β = 0.025, p = 4.52 × 10- 71 and β = 0.021, p = 5.84 × 10- 41, respectively) and factor 2 (phospholipids/non-storage lipids) was inversely (β = - 0.013, p = 2.28 × 10- 18) associated with the LPIR score. These findings were replicated for HOMA-IR in the HAPI Heart Study (β = 0.10, p = 1.21 × 10- 02 for storage, β = - 0.13, p = 3.14 × 10- 04 for non-storage, and β = 0.19, p = 8.40 × 10- 07 for mixed lipids).ConclusionsNon-storage lipidomics species show a significant inverse association with the LPIR metabolic dysfunction score and present a promising focus for future therapeutic and prevention studies
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations
Homozygous nonsense mutations in WNT2B were identified in three individuals from two unrelated families with severe, neonatal-onset osmotic diarrhea after whole-exome sequencing was performed on trios from the two families. Intestinal biopsy samples from affected individuals were used for histology and immunofluorescence and to generate enteroids ex vivo. Histopathologic evaluation demonstrated chronic inflammatory changes in the stomach, duodenum, and colon. Immunofluorescence demonstrated diminished staining for OLFM4, a marker for intestinal stem cells (ISCs). The enteroids generated from WNT2B-deficient intestinal epithelium could not be expanded and did not survive passage. Addition of CHIR-99021 (a GSK3A and GSK3B inhibitor and activator of canonical WNT/β-CATENIN signaling) could not rescue WNT2B-deficient enteroids. Addition of supplemental recombinant murine WNT2B was able to perpetuate small enteroids for multiple passages but failed to expand their number. Enteroids showed a 10-fold increase in the expression of LEF1 mRNA and a 100-fold reduction in TLR4 expression, compared with controls by quantitative RT-PCR, indicating alterations in canonical WNT and microbial pattern-recognition signaling. In summary, individuals with homozygous nonsense mutations in WNT2B demonstrate severe intestinal dysregulation associated with decreased ISC number and function, likely explaining their diarrheal phenotype. WNT2B deficiency should be considered for individuals with neonatal-onset diarrhea