| 1. |
- Skuladottir, AT, et al.
(författare)
-
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome
- 2022
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1, s. 1598-
-
Tidskriftsartikel (refereegranskat)abstract
- Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated with the syndrome. The most significant association is with a missense variant (p.Glu366Lys) in SERPINA1 that protects against CTS (P = 2.9 × 10−24, OR = 0.76). Through various functional analyses, we conclude that at least 22 genes mediate CTS risk and highlight the role of 19 CTS variants in the biology of the extracellular matrix. We show that the genetic component to the risk is higher in bilateral/recurrent/persistent cases than nonrecurrent/nonpersistent cases. Anthropometric traits including height and BMI are genetically correlated with CTS, in addition to early hormonal-replacement therapy, osteoarthritis, and restlessness. Our findings suggest that the components of the extracellular matrix play a key role in the pathogenesis of CTS.
|
|
| 2. |
- Amarsi, Anish, et al.
(författare)
-
The GALAH Survey : non-LTE departure coefficients for large spectroscopic surveys
- 2020
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 642
-
Tidskriftsartikel (refereegranskat)abstract
- Massive sets of stellar spectroscopic observations are rapidly becoming available and these can be used to determine the chemical composition and evolution of the Galaxy with unprecedented precision. One of the major challenges in this endeavour involves constructing realistic models of stellar spectra with which to reliably determine stellar abundances. At present, large stellar surveys commonly use simplified models that assume that the stellar atmospheres are approximately in local thermodynamic equilibrium (LTE). To test and ultimately relax this assumption, we have performed non-LTE calculations for 13 different elements (H, Li, C, N, O, Na, Mg, Al, Si, K, Ca, Mn, and Ba), using recent model atoms that have physically-motivated descriptions for the inelastic collisions with neutral hydrogen, across a grid of 3756 1D MARCS model atmospheres that spans 3000 <= T-eff/K <= 8000, - 0.5 <= log g/cm s(-2) <= 5.5, and - 5 <= [Fe/H] <= 1. We present the grids of departure coefficients that have been implemented into the GALAH DR3 analysis pipeline in order to complement the extant non-LTE grid for iron. We also present a detailed line-by-line re-analysis of 50 126 stars from GALAH DR3. We found that relaxing LTE can change the abundances by between - 0.7 dex and + 0.2 dex for different lines and stars. Taking departures from LTE into account can reduce the dispersion in the [A/Fe] versus [Fe/H] plane by up to 0.1 dex, and it can remove spurious differences between the dwarfs and giants by up to 0.2 dex. The resulting abundance slopes can thus be qualitatively different in non-LTE, possibly with important implications for the chemical evolution of our Galaxy. The grids of departure coefficients are publicly available and can be implemented into LTE pipelines to make the most of observational data sets from large spectroscopic surveys.
|
|
| 3. |
- Gisladottir, Rosa S, et al.
(författare)
-
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
- 2020
-
Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 30:23
-
Tidskriftsartikel (refereegranskat)abstract
- Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, pcombined= 5.6× 10-15). We demonstrate that TAAR5 genotype affects aversion to fish odor, reflected by linguistic descriptions of the odor and pleasantness ratings. We also discovered common sequence variants in two canonical olfactory receptor loci that associate with increased intensity and naming of licorice odor (trans-anethole: lead variant p.Lys233Asn in OR6C70, pcombined= 8.8× 10-16 and pcombined= 1.4× 10-9) and enhanced naming of cinnamon (trans-cinnamaldehyde; intergenic variant rs317787-T, pcombined= 5.0× 10-17). Together, our results show that TAAR5 genotype variation influences human odor responses and highlight that sequence diversity in canonical OR genes can lead to enhanced olfactory ability, in contrast to the view that greater tolerance for mutations in the human OR repertoire leads to diminished function.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Aguado, D. S., et al.
(författare)
-
PISN-explorer : hunting the descendants of very massive first stars
- 2023
-
Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press. - 0035-8711 .- 1365-2966. ; 520:1, s. 866-878
-
Tidskriftsartikel (refereegranskat)abstract
- The very massiv e first stars ( m > 100 M-?) were fundamental to the early phases of reionization, metal enrichment, and supermassive black hole formation. Among them, those with 140 <= m / M-? <= 260 are predicted to evolve as Pair Instability Supernovae (PISN) leaving a unique chemical signature in their chemical yields. Still, despite long searches, the stellar descendants of PISN remain elusive. Here we propose a new methodology, the PISN-explorer, to identify candidates for stars with a dominant PISN enrichment. The PISN-explorer is based on a combination of physically driven models, and the FERRE code; and applied to data from large spectroscopic surv e ys (APOGEE, GALAH, GES, MINCE, and the JINA data base). We looked into more than 1.4 million objects and built a catalogue with 166 candidates of PISN descendants. One of which, 2M13593064 + 3241036, was observed with UVES at VLT and full chemical signature was derived, including the killing elements, Cu and Zn. We find that our proposed methodology is efficient in selecting PISN candidates from both the Milky Way and dwarf satellite galaxies such as Sextans or Draco. Further high-resolution observations are highly required to confirm our best selected candidates, therefore allowing us to probe the existence and properties of the very massive First Stars.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Nissen, P. E., et al.
(författare)
-
Abundances of iron-peak elements in accreted and in situ born Galactic halo stars
- 2024
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 682
-
Tidskriftsartikel (refereegranskat)abstract
- Context. Studies of the element abundances and kinematics of stars belonging to the Galactic halo have revealed the existence of two distinct populations: accreted stars with a low [α/Fe] ratio and in situ born stars with a higher ratio.Aims. Previous work on the abundances of C, O, Na, Mg, Si, Ca, Ti, Cr, Mn, Fe, Ni, Cu, and Zn in high-α and low-α halo stars is extended to include the abundances of Sc, V, and Co, enabling us to study the nucleosynthesis of all iron-peak elements along with the lighter elements.Methods. The Sc, V, and Co abundances were determined from a 1D MARCS model-atmosphere analysis of equivalent widths of atomic lines in high signal-to-noise, high resolution spectra assuming local thermodynamic equilibrium (LTE). In addition, new 3D and/or non-LTE calculations were used to correct the 1D LTE abundances for several elements including consistent 3D non-LTE calculations for Mg.Results. The two populations of accreted and in situ born stars are well separated in diagrams showing [Sc/Fe], [V/Fe], and [Co/Fe] as a function of [Fe/H]. The [X/Mg] versus [Mg/H] trends for high-α and low-α stars were used to determine the yields of core-collapse and Type Ia supernovae. The largest Type Ia contribution occurs for Cr, Mn, and Fe, whereas Cu is a pure core-collapse element. Sc, Ti, V, Co, Ni, and Zn represent intermediate cases. A comparison with yields calculated for supernova models shows poor agreement for the core-collapse yields. The Ia yields suggest that sub-Chandrasekhar-mass Type Ia supernovae provide a dominant contribution to the chemical evolution of the host galaxies of the low-α stars. A substructure in the abundances and kinematics of the low-α stars suggests that they arise from at least two different satellite accretion events, Gaia-Sausage-Enceladus and Thamnos.
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
- Skuladottir, AT, et al.
(författare)
-
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo
- 2021
-
Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 4:1, s. 1148-
-
Tidskriftsartikel (refereegranskat)abstract
- Vertigo is the leading symptom of vestibular disorders and a major risk factor for falls. In a genome-wide association study of vertigo (Ncases = 48,072, Ncontrols = 894,541), we uncovered an association with six common sequence variants in individuals of European ancestry, including missense variants in ZNF91, OTOG, OTOGL, and TECTA, and a cis-eQTL for ARMC9. The association of variants in ZNF91, OTOGL, and OTOP1 was driven by an association with benign paroxysmal positional vertigo. Using previous reports of sequence variants associating with age-related hearing impairment and motion sickness, we found eight additional variants that associate with vertigo. Although disorders of the auditory and the vestibular system may co-occur, none of the six genome-wide significant vertigo variants were associated with hearing loss and only one was associated with age-related hearing impairment. Our results uncovered sequence variants associating with vertigo in a genome-wide association study and implicated genes with known roles in inner ear development, maintenance, and disease.
|
|
