| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Ambrose, Aimee, et al.
(författare)
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Histories of heating: looking back, moving forwards
- 2024
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Ingår i: Post-Carbon Inclusion : Transitions Built on Justice - Transitions Built on Justice. - 9781529229448 - 9781529229479 - 9781529229431 ; , s. 36-52
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Bokkapitel (refereegranskat)
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| 3. |
- Ambrose, Aimee, et al.
(författare)
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Oral histories of domestic heating transitions in England and Sweden : lessons on how heating transitions play out across place and time
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Ingår i: International Journal of Housing Policy. - 1949-1247.
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Tidskriftsartikel (refereegranskat)abstract
- Over the last seventy years, most European countries have undergone one or more transitions in home heating provision. Moving first away from burning solid fuels and towards communal or individual central heating systems and now towards low carbon electric heating systems. Heating transitions are awash with personal, social and cultural complexity but tend to be simplified into grand narratives that tell simple stories of technological triumph. Through analysis of 21 oral histories gathered across England and Sweden, we look beyond the techno-economic dimensions of heating transitions to understand how they play out in diverse ways in everyday life over time, producing different experiences and outcomes (socially, culturally, financially) across places and social groups. We reveal similarities and divergences between the outcomes associated with different heating transition routes pursued in each country, underlining the long-lasting consequences of heating change. The research reported in this article received full ethics approval from the University Research Ethics Committees at Sheffield Hallam University and Lund University. Informed, written consent was obtained from all research participants.
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| 4. |
- Franke, Andre, et al.
(författare)
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1118-1125
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Tidskriftsartikel (refereegranskat)abstract
- We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease.
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| 5. |
- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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