115 research outputs found
Northern and southern blacklegged (deer) ticks are genetically distinct with different histories and Lyme spirochete infection rates
NaturalisAnimal science
Open Issues on the Synthesis of Evolved Stellar Populations at Ultraviolet Wavelengths
In this paper we briefly review three topics that have motivated our (and
others') investigations in recent years within the context of evolutionary
population synthesis techniques. These are: The origin of the FUV up-turn in
elliptical galaxies, the age-metallicity degeneracy, and the study of the
mid-UV rest-frame spectra of distant red galaxies. We summarize some of our
results and present a very preliminary application of a UV grid of theoretical
spectra in the analysis of integrated properties of aged stellar populations.
At the end, we concisely suggest how these topics can be tackled once the World
Space Observatory enters into operation in the midst of this decade.Comment: 8 pages, 4 figures, accepted for publication in Astrophysics & Space
Science, UV Universe special issu
The Milky Way Bulge: Observed properties and a comparison to external galaxies
The Milky Way bulge offers a unique opportunity to investigate in detail the
role that different processes such as dynamical instabilities, hierarchical
merging, and dissipational collapse may have played in the history of the
Galaxy formation and evolution based on its resolved stellar population
properties. Large observation programmes and surveys of the bulge are providing
for the first time a look into the global view of the Milky Way bulge that can
be compared with the bulges of other galaxies, and be used as a template for
detailed comparison with models. The Milky Way has been shown to have a
box/peanut (B/P) bulge and recent evidence seems to suggest the presence of an
additional spheroidal component. In this review we summarise the global
chemical abundances, kinematics and structural properties that allow us to
disentangle these multiple components and provide constraints to understand
their origin. The investigation of both detailed and global properties of the
bulge now provide us with the opportunity to characterise the bulge as observed
in models, and to place the mixed component bulge scenario in the general
context of external galaxies. When writing this review, we considered the
perspectives of researchers working with the Milky Way and researchers working
with external galaxies. It is an attempt to approach both communities for a
fruitful exchange of ideas.Comment: Review article to appear in "Galactic Bulges", Editors: Laurikainen
E., Peletier R., Gadotti D., Springer Publishing. 36 pages, 10 figure
Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium
Genotyping arrays are a cost effective approach when typing previously-identified genetic polymorphisms in large numbers of samples. One limitation of genotyping arrays with rare variants (e.g., minor allele frequency [MAF] <0.01) is the difficulty that automated clustering algorithms have to accurately detect and assign genotype calls. Combining intensity data from large numbers of samples may increase the ability to accurately call the genotypes of rare variants. Approximately 62,000 ethnically diverse samples from eleve
Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts
Background Genetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants
that have been identified have small effects. We hypothesised that a polygenic risk score using additional variants
would predict COPD and associated phenotypes.
Methods We constructed a polygenic risk score using a genome-wide association study of lung function (FEV1 and
FEV1/forced vital capacity [FVC]) from the UK Biobank and SpiroMeta. We tested this polygenic risk score in nine
cohorts of multiple ethnicities for an association with moderate-to-severe COPD (defined as FEV1/FVC <0·7 and FEV1
<80% of predicted). Associations were tested using logistic regression models, adjusting for age, sex, height, smoking
pack-years, and principal components of genetic ancestry. We assessed predictive performance of models by area
under the curve. In a subset of studies, we also studied quantitative and qualitative CT imaging phenotypes that
reflect parenchymal and airway pathology, and patterns of reduced lung growth.
Findings The polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81
[95% CI 1·74–1·88] and non-European (1·42 [1·34–1·51]) populations. Compared with the first decile, the tenth decile
of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56–9·72) in European ancestry and
4·83 (3·45–6·77) in non-European ancestry cohorts. The polygenic risk score was superior to previously described
genetic risk scores and, when combined with clinical risk factors (ie, age, sex, and smoking pack-years), showed
improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79–0·81]
vs 0·76 [0·75–0·76]). The polygenic risk score was associated with CT imaging phenotypes, including wall area
percent, quantitative and qualitative measures of emphysema, local histogram emphysema patterns, and destructive
emphysema subtypes. The polygenic risk score was associated with a reduced lung growth pattern.
Interpretation A risk score comprised of genetic variants can identify a small subset of individuals at markedly
increased risk for moderate-to-severe COPD, emphysema subtyp
Genetic loci associated with plasma phospholipid N-3 fatty acids: A Meta-Analysis of Genome-Wide association studies from the charge consortium
Long-chain n-3 polyunsaturated fatty acids (PUFAs) can derive from diet or from α-linolenic acid (ALA) by elongation and desaturation. We investigated the association of common genetic variation with plasma phospholipid levels of the four major n-3 PUFAs by performing genome-wide association studies in five population-based cohorts comprising 8,866 subjects of European ancestry. Minor alleles of SNPs in FADS1 and FADS2 (desaturases) were associated with higher levels of ALA (p = 3×10-64) and lower levels of eicosapentaenoic acid (EPA, p = 5×10-58) and docosapentaenoic acid (DPA, p = 4×10-154). Minor alleles of SNPs in ELOVL2 (elongase) were associated with higher EPA (p = 2×10-12) and DPA (p = 1×10-43) and lower docosahexaenoic acid (DHA, p = 1×10-15). In addition to genes in the n-3 pathway, we identified a novel association of DPA with several SNPs in GCKR (glucokinase regulator, p = 1×10-8). We observed a weaker association between ALA and EPA among carriers of the minor allele of a representative SNP in FADS2 (rs1535), suggesting a lower rate of ALA-to-EPA conversion in these subjects. In samples of African, Chinese, and Hispanic ancestry, associations of n-3 PUFAs were similar with a representative SNP in FADS1 but less consistent with a representative SNP in ELOVL2. Our findings show that common variation in n-3 metabolic pathway genes and in GCKR influences plasma phospholipid levels of n-3 PUFAs in populations of European ancestry and, for FADS1, in other ancestries
Bacterial cellulose and bacterial cellulose/polycaprolactone composite as tissue substitutes in rabbits' cornea
Clonal Hematopoiesis Is Associated with Higher Risk of Stroke
Background and Purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel age-related risk factor for cardiovascular disease-related morbidity and mortality. The association of CHIP with risk of incident ischemic stroke was reported previously in an exploratory analysis including a small number of incident stroke cases without replication and lack of stroke subphenotyping. The purpose of this study was to discover whether CHIP is a risk factor for ischemic or hemorrhagic stroke. Methods: We utilized plasma genome sequence data of blood DNA to identify CHIP in 78 752 individuals from 8 prospective cohorts and biobanks. We then assessed the association of CHIP and commonly mutated individual CHIP driver genes (DNMT3A, TET2, and ASXL1) with any stroke, ischemic stroke, and hemorrhagic stroke. Results: CHIP was associated with an increased risk of total stroke (hazard ratio, 1.14 [95% CI, 1.03-1.27]; P=0.01) after adjustment for age, sex, and race. We observed associations with CHIP with risk of hemorrhagic stroke (hazard ratio, 1.24 [95% CI, 1.01-1.51]; P=0.04) and with small vessel ischemic stroke subtypes. In gene-specific association results, TET2 showed the strongest association with total stroke and ischemic stroke, whereas DMNT3A and TET2 were each associated with increased risk of hemorrhagic stroke. Conclusions: CHIP is associated with an increased risk of stroke, particularly with hemorrhagic and small vessel ischemic stroke. Future studies clarifying the relationship between CHIP and subtypes of stroke are needed
Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
Background So far, more than 170 loci have been associated with circulating lipid levels through genomewide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional variants associated with circulating lipid levels. Methods We used the 1000 Genomes Project as a reference panel for the imputations of GWAS data from ~60 000 individuals in the discovery stage and ~90 000 samples in the replication stage. Results Our study resu
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