| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 3. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
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| 6. |
- Mahajan, Anubha, et al.
(författare)
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
- 2022
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
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Tidskriftsartikel (refereegranskat)abstract
- We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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| 7. |
- Ramilowski, JA, et al.
(författare)
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Functional annotation of human long noncoding RNAs via molecular phenotyping
- 2020
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Ingår i: Genome research. - : Cold Spring Harbor Laboratory. - 1549-5469 .- 1088-9051. ; 30:7, s. 1060-1072
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Tidskriftsartikel (refereegranskat)abstract
- Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we systematically knocked down the expression of 285 lncRNAs in human dermal fibroblasts and quantified cellular growth, morphological changes, and transcriptomic responses using Capped Analysis of Gene Expression (CAGE). Antisense oligonucleotides targeting the same lncRNAs exhibited global concordance, and the molecular phenotype, measured by CAGE, recapitulated the observed cellular phenotypes while providing additional insights on the affected genes and pathways. Here, we disseminate the largest-to-date lncRNA knockdown data set with molecular phenotyping (over 1000 CAGE deep-sequencing libraries) for further exploration and highlight functional roles for ZNF213-AS1 and lnc-KHDC3L-2.
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| 8. |
- Ishigaki, Kazuyoshi, et al.
(författare)
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Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
- 2022
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:11, s. 1640-1651
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Tidskriftsartikel (refereegranskat)abstract
- Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-mapping resolution and performances of polygenic risk scores (PRS). Here, we present a large-scale genome-wide association study (GWAS) of RA, which includes 276,020 samples from five ancestral groups. We conducted a multi-ancestry meta-analysis and identified 124 loci (P < 5 × 10−8), of which 34 are novel. Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues (for example, WISP1) in RA etiology. Multi-ancestry fine-mapping identified putatively causal variants with biological insights (for example, LEF1). Moreover, PRS based on multi-ancestry GWAS outperformed PRS based on single-ancestry GWAS and had comparable performance between populations of European and East Asian ancestries. Our study provides several insights into the etiology of RA and improves the genetic predictability of RA.
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| 9. |
- Kuncarayakti, Hanindyo, et al.
(författare)
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Direct Evidence of Two-component Ejecta in Supernova 2016gkg from Nebular Spectroscopy
- 2020
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 902:2
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Tidskriftsartikel (refereegranskat)abstract
- Spectral observations of the type-IIb supernova (SN) 2016gkg at 300-800 days are reported. The spectra show nebular characteristics, revealing emission from the progenitor star's metal-rich core and providing clues to the kinematics and physical conditions of the explosion. The nebular spectra are dominated by emission lines of [O i] lambda lambda 6300, 6364 and [Ca ii] lambda lambda 7292, 7324. Other notable, albeit weaker, emission lines include Mg I] lambda 4571, [Fe ii] lambda 7155, O I lambda 7774, Ca II triplet, and a broad, boxy feature at the location of H alpha. Unlike in other stripped-envelope SNe, the [O i] doublet is clearly resolved due to the presence of strong narrow components. The doublet shows an unprecedented emission line profile consisting of at least three components for each [O i]lambda 6300, 6364 line: a broad component (width similar to 2000 km s(-1)), and a pair of narrow blue and red components (width similar to 300 km s(-1)) mirrored against the rest velocity. The narrow component appears also in other lines, and is conspicuous in [O i]. This indicates the presence of multiple distinct kinematic components of material at low and high velocities. The low-velocity components are likely to be produced by a dense, slow-moving emitting region near the center, while the broad components are emitted over a larger volume. These observations suggest an asymmetric explosion, supporting the idea of two-component ejecta that influence the resulting late-time spectra and light curves. SN 2016gkg thus presents striking evidence for significant asymmetry in a standard-energy SN explosion. The presence of material at low velocity, which is not predicted in 1D simulations, emphasizes the importance of multidimensional explosion modeling of SNe.
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| 10. |
- Kelkka, T, et al.
(författare)
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Anti-COX-2 autoantibody is a novel biomarker of immune aplastic anemia
- 2022
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 36:9, s. 2317-2327
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Tidskriftsartikel (refereegranskat)abstract
- In immune aplastic anemia (IAA), severe pancytopenia results from the immune-mediated destruction of hematopoietic stem cells. Several autoantibodies have been reported, but no clinically applicable autoantibody tests are available for IAA. We screened autoantibodies using a microarray containing >9000 proteins and validated the findings in a large international cohort of IAA patients (n = 405) and controls (n = 815). We identified a novel autoantibody that binds to the C-terminal end of cyclooxygenase 2 (COX-2, aCOX-2 Ab). In total, 37% of all adult IAA patients tested positive for aCOX-2 Ab, while only 1.7% of the controls were aCOX-2 Ab positive. Sporadic non-IAA aCOX-2 Ab positive cases were observed among patients with related bone marrow failure diseases, multiple sclerosis, and type I diabetes, whereas no aCOX-2 Ab seropositivity was detected in the healthy controls, in patients with non-autoinflammatory diseases or rheumatoid arthritis. In IAA, anti-COX-2 Ab positivity correlated with age and the HLA-DRB1*15:01 genotype. 83% of the >40 years old IAA patients with HLA-DRB1*15:01 were anti-COX-2 Ab positive, indicating an excellent sensitivity in this group. aCOX-2 Ab positive IAA patients also presented lower platelet counts. Our results suggest that aCOX-2 Ab defines a distinct subgroup of IAA and may serve as a valuable disease biomarker.
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| 11. |
- Kool, Erik C., et al.
(författare)
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AT 2017gbl : a dust obscured TDE candidate in a luminous infrared galaxy
- 2020
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 498:2, s. 2167-2195
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Tidskriftsartikel (refereegranskat)abstract
- We present the discovery with Keck of the extremely infrared (IR) luminous transient AT 2017gbl, coincident with the Northern nucleus of the luminous infrared galaxy (LIRG) IRAS 23436+5257. Our extensive multiwavelength follow-up spans ∼900 d, including photometry and spectroscopy in the optical and IR, and (very long baseline interferometry) radio and X-ray observations. Radiative transfer modelling of the host galaxy spectral energy distribution and long-term pre-outburst variability in the mid-IR indicate the presence of a hitherto undetected dust obscured active galactic nucleus (AGN). The optical and near-IR spectra show broad ∼2000 km s−1 hydrogen, He i, and O i emission features that decrease in flux over time. Radio imaging shows a fast evolving compact source of synchrotron emission spatially coincident with AT 2017gbl. We infer a lower limit for the radiated energy of 7.3 × 1050 erg from the IR photometry. An extremely energetic supernova would satisfy this budget, but is ruled out by the radio counterpart evolution. Instead, we propose AT 2017gbl is related to an accretion event by the central supermassive black hole, where the spectral signatures originate in the AGN broad line region and the IR photometry is consistent with re-radiation by polar dust. Given the fast evolution of AT 2017gbl, we deem a tidal disruption event (TDE) of a star a more plausible scenario than a dramatic change in the AGN accretion rate. This makes AT 2017gbl the third TDE candidate to be hosted by a LIRG, in contrast to the so far considered TDE population discovered at optical wavelengths and hosted preferably by post-starburst galaxies.
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| 12. |
- Mrisho, Latifa M., et al.
(författare)
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Influence of Olfaction in Host-Selection Behavior of the Cassava Whitefly Bemisia tabaci
- 2021
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Ingår i: Frontiers in Ecology and Evolution. - : Frontiers Media SA. - 2296-701X. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Cassava is a vital food-security crop in Sub-Saharan Africa. Cassava crops are, however, severely affected by viral diseases transmitted by members of the whitefly species complex Bemisia tabaci. We have here investigated the role of olfaction in host selection behavior of the cassava whitefly B. tabaci SSA-ESA biotype. Surprisingly, we find that the whiteflies appear to make little use of olfaction to find their favored host. The cassava whitely shows a highly reduced olfactory system, both at the morphological and molecular level. Whitefly antennae possess only 15 sensilla with possible olfactory function, and from the genome we identified just a handful of candidate chemoreceptors, including nine tuning odorant receptors, which would afford the whitefly with one of the smallest olfactomes identified from any insect to date. Behavioral experiments with host and non-host plants, as well as with identified specific volatiles from these sources, suggest that the few input channels present are primarily tuned toward the identification of unwanted features, rather than favored ones, a strategy quite unlike most other insects. The demonstrated repellence effect of specific volatile chemicals produced by certain plants unflavored by whiteflies suggests that intercropping with these plants could be a viable strategy to reduce whitefly infestations in cassava fields.
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| 13. |
- Muchanga, S. M. J., et al.
(författare)
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Association between nausea and vomiting of pregnancy and postpartum depression: the Japan Environment and Children's Study
- 2022
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Ingår i: Journal of Psychosomatic Obstetrics & Gynecology. - : Informa UK Limited. - 0167-482X .- 1743-8942. ; 43:1, s. 2-10
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Postpartum depression (PPD) is a global emotional distress that affects women and their offspring regardless of their culture. The association between nausea and vomiting of pregnancy (NVP) and PPD has been widely described only for the severe form of NVP. We aimed to assess the relationship between PPD and NVP with regards to its severity. Methods: Data from the Japan Environment and Children's Study (JECS), a birth cohort study, were analyzed. PPD was assessed using the Edinburgh Postnatal Depression Scale (EPDS). Multiple logistic regression models were performed to assess the association between NVP and PPD. Results: Out of the 80,396 women included in the study 14% had PPD. Among them 4,640 (42.1%) had mild NVP; 3,295 (29.9%) had moderate NVP whereas 1,481 (13.4%) had severe NVP. All forms of NVP were associated with PPD and the association gradually increased with the severity of NVP symptoms with odd ratio (OR): 1.26; 95% confidence interval (CI): 1.18-1.35 for mild, OR: 1.28; 95% CI: 1.19-1.38 for moderate and OR: 1.54; 95% CI: 1.42-1.68 for severe NVP. Conclusion: Japanese women with NVP were more susceptible to develop PPD and the more severe the NVP symptoms were, the greater the risk of PPD. Thus, close monitoring of NVP-affected women is recommended.
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