| 1. |
|
|
| 2. |
|
|
| 3. |
- Ishigaki, Kazuyoshi, et al.
(författare)
-
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
- 2022
-
Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:11, s. 1640-1651
-
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.
|
|
| 4. |
|
|
| 5. |
- Oehri, Jacqueline, et al.
(författare)
-
Vegetation type is an important predictor of the arctic summer land surface energy budget
- 2022
-
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 13
-
Tidskriftsartikel (refereegranskat)abstract
- Despite the importance of high-latitude surface energy budgets (SEBs) for land-climate interactions in the rapidly changing Arctic, uncertainties in their prediction persist. Here, we harmonize SEB observations across a network of vegetated and glaciated sites at circumpolar scale (1994–2021). Our variance-partitioning analysis identifies vegetation type as an important predictor for SEB-components during Arctic summer (June-August), compared to other SEB-drivers including climate, latitude and permafrost characteristics. Differences among vegetation types can be of similar magnitude as between vegetation and glacier surfaces and are especially high for summer sensible and latent heat fluxes. The timing of SEB-flux summer-regimes (when daily mean values exceed 0 Wm−2) relative to snow-free and -onset dates varies substantially depending on vegetation type, implying vegetation controls on snow-cover and SEB-flux seasonality. Our results indicate complex shifts in surface energy fluxes with land-cover transitions and a lengthening summer season, and highlight the potential for improving future Earth system models via a refined representation of Arctic vegetation types.
|
|
| 6. |
|
|
| 7. |
- Okada, Yukinori, et al.
(författare)
-
Genetics of rheumatoid arthritis contributes to biology and drug discovery
- 2014
-
Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 506:7488, s. 376-381
-
Tidskriftsartikel (refereegranskat)abstract
- A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA)(1). Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating similar to 10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2-4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation(5), cis-acting expression quantitative trait loci(6) and pathway analyses(7-9)-as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes-to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.
|
|
| 8. |
|
|
| 9. |
- Weni, Woro Mustika, et al.
(författare)
-
Psychometric evaluation of the Indonesian version of the Person-centered Care Assessment Tool
- 2023
-
Ingår i: International Journal of Older People Nursing. - : John Wiley & Sons. - 1748-3735 .- 1748-3743. ; 18:6
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The number of Indonesian care staff working in hospitals and long-term care facilities caring for persons with dementia in Japan is increasing; however, there is no instrument available in the Indonesian language to assess their dementia care practice.Objectives: This study aimed to translate the Person-centered Care Assessment Tool (P-CAT) and evaluate its psychometric properties in a sample of Indonesian care staff working in dementia care and long-term care facilities in Japan.Methods: This is a descriptive, methodological, and cross-sectional study. The P-CAT was translated into the Indonesian language. The draft was administered to Indonesian care staff (n = 218) working at long-term care facilities in Japan. Data were analysed using exploratory factor analysis (EFA), confirmatory factor analysis (CFA), known-group validity, internal consistency, and test-retest reliability.Results: EFA showed three-factor and CFA of the three-factor indicated that the model had an acceptable fit (chi-squared statistics/degree of freedom = 1.78, comparative fit index = 0.94, root mean square error of approximation = 0.06) with a slightly different structure compared to the original P-CAT. Regarding known-group validity, the P-CAT total score was significantly higher for those who had training in dementia, who knew about person-centred care, and who showed satisfaction in the job. Internal consistency (Cronbach's a) of the total scale was 0.68 which is considered acceptable, and the test-retest reliability intraclass correlation coefficient was 0.61 which is considered moderate.Conclusion: The Indonesian P-CAT indicated sound validity and reliability to measure person-centred care among Indonesian care staff working in dementia care and long-term care facilities in Japan.Implication for Practice: The development of Indonesian P-CAT allows the evaluation of dementia care, promotes and further improves person-centred care for persons with dementia provided by Indonesian care staff working in long-term care facilities in Japan.
|
|
