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- Blokland, G. A. M., et al.
(författare)
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Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
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Tidskriftsartikel (refereegranskat)abstract
- Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
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- Jordi, C, et al.
(författare)
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The design and performance of the Gaia photometric system
- 2006
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 1365-2966 .- 0035-8711. ; 367:1, s. 290-314
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Tidskriftsartikel (refereegranskat)abstract
- The European Gaia astrometry mission is due for launch in 2011. Gaia will rely on the proven principles of the ESA Hipparcos mission to create an all-sky survey of about one billion stars throughout our Galaxy and beyond, by observing all objects down to 20 mag. Through its massive measurement of stellar distances, motions and multicolour photometry, it will provide fundamental data necessary for unravelling the structure, formation and evolution of the Galaxy. This paper presents the design and performance of the broad- and medium-band set of photometric filters adopted as the baseline for Gaia. The 19 selected passbands (extending from the UV to the far-red), the criteria and the methodology on which this choice has been based are discussed in detail. We analyse the photometric capabilities for characterizing the luminosity, temperature, gravity and chemical composition of stars. We also discuss the automatic determination of these physical parameters for the large number of observations involved, for objects located throughout the entire Hertzsprung-Russell diagram. Finally, the capability of the photometric system (PS) to deal with the main Gaia science case is outlined.
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- Rosser, Z H, et al.
(författare)
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Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.
- 2000
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1526-43
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Tidskriftsartikel (refereegranskat)abstract
- Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.
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| 10. |
- Cescutti, G., et al.
(författare)
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MINCE I. Presentation of the project and of the first year sample
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 668
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Tidskriftsartikel (refereegranskat)abstract
- Context. In recent years, Galactic archaeology has become a particularly vibrant field of astronomy, with its main focus set on the oldest stars of our Galaxy. In most cases, these stars have been identified as the most metal-poor. However, the struggle to find these ancient fossils has produced an important bias in the observations - in particular, the intermediate metal-poor stars (-2.5 < [Fe/H] < -1.5) have been frequently overlooked. The missing information has consequences for the precise study of the chemical enrichment of our Galaxy, in particular for what concerns neutron capture elements and it will be only partially covered by future multi object spectroscopic surveys such as WEAVE and 4MOST.Aims. Measuring at Intermediate Metallicity Neutron Capture Elements (MINCE) is gathering the first high-quality spectra (high signal-to-noise ratio, S/N, and high resolution) for several hundreds of bright and metal-poor stars, mainly located in our Galactic halo.Methods. We compiled our selection mainly on the basis of Gaia data and determined the stellar atmospheres of our sample and the chemical abundances of each star.Results. In this paper, we present the first sample of 59 spectra of 46 stars. We measured the radial velocities and computed the Galactic orbits for all stars. We found that 8 stars belong to the thin disc, 15 to disrupted satellites, and the remaining cannot be associated to the mentioned structures, and we call them halo stars. For 33 of these stars, we provide abundances for the elements up to zinc. We also show the chemical evolution results for eleven chemical elements, based on recent models.Conclusions. Our observational strategy of using multiple telescopes and spectrographs to acquire high S/N and high-resolution spectra for intermediate-metallicity stars has proven to be very efficient, since the present sample was acquired over only about one year of observations. Finally, our target selection strategy, after an initial adjustment, proved satisfactory for our purposes.
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