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- Bishop, D. Timothy, et al.
(författare)
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Genome-wide association study identifies three loci associated with melanoma risk
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:8, s. 920-925
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Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
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| 2. |
- Goldstein, Alisa M, et al.
(författare)
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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
- 2007
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 44:2, s. 99-106
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer. METHODS: These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents. RESULTS: Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis < or =40 years and > or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk. CONCLUSIONS: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.
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| 3. |
- Goldstein, Alisa M., et al.
(författare)
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High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
- 2006
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Ingår i: Cancer Research. - 1538-7445 .- 0008-5472. ; 66:20, s. 9818-9828
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Tidskriftsartikel (refereegranskat)abstract
- GenoMEL, comprising major familial melanoma research groups from North America, Europe, Asia, and Australia has created the largest familial melanoma sample yet available to characterize mutations in the high-risk melanoma susceptibility genes CDKN2A/alternate reading frames (ARF), which encodes p16 and p14ARF, and CDK4 and to evaluate their relationship with pancreatic cancer (PC), neural system tumors (NST), and uveal melanoma (UM). This study included 466 families (2,137 patients) with at least three melanoma patients from 17 GenoMEL centers. Overall, 41% (n = 190) of families had mutations; most involved p16 (n = 178). Mutations in CDK4 (n = 5) and ARF (n = 7) occurred at similar frequencies (2-3%). There were striking differences in mutations across geographic locales. The proportion of families with the most frequent founder mutation(s) of each locale differed significantly across the seven regions (P = 0.0009). Single founder CDKN2A mutations were predominant in Sweden (p.R112_L113insR, 92% of family's mutations) and the Netherlands (c.225_243del19, 90% of family's mutations). France, Spain, and Italy had the same most frequent mutation (p.G101W). Similarly, Australia and United Kingdom had the same most common mutations (p.M53I, cdVS2-105A > G, p.R24P, and p.L32P). As reported previously, there was a strong association between PC and CDKN2A mutations (P < 0.0001). This relationship differed by mutation. In contrast, there was little evidence for an association between CDKN2A mutations and NST (P = 0.52) or UM (P = 0.25). There was a marginally significant association between NST and ARF (P = 0.05). However, this particular evaluation had low power and requires confirmation. This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available.
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| 5. |
- Hansson, Lisa, 1978-
(författare)
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Managing Problems in Public Procurement of regional bus transport involved in an EU infrigiment process
- 2009
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Ingår i: Proceedings of the Eleventh International Conference on Competition and Ownership in Land Passenger Transport: Contractural Setting. - Delft : Delft University of Technology. - 9789056382216
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Today, 13% of the EU’s GNP is disbursed through public procurement; accordingly, the use of public procurement is seen as an important tool in the EU’s vision of becoming the most competitive economy in the world by 2010. However, to achieve this vision, the regulations concerning public procurement must be followed. This paper discusses management problems encountered in the public procurement of regional bus transport. The question of management problems is empirically explored in the case of an EC infringement procedure regarding a procurement made in Sweden. When faced with EU legal action, various actors are forced to interact and it is shown in the paper how difficult it can be to change the decisions taken in a regional traffic procurement, even thou the procurement is appealed. The theoretical relevance of the paper explains the management problems by seeing them as conflicts between different bureaucratic structures.
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| 6. |
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| 7. |
- Hansson, Lisa, 1978-
(författare)
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Spela med tiden - kommunalpolitiska strategier för att nå inflytande i trafikfrågor
- 2008. - 1
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Ingår i: Resande, planering, makt. - Lund : Arkiv förlag. ; , s. 262-
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Bokkapitel (refereegranskat)abstract
- Samhällsvetenskaplig och humanistisk forskning har en viktig roll i att bredda kunskapsunderlagen för svensk transportplanering. Den här boken gör just det. Den har författats av forskare inom forskarnätverket FAST, ett samarbete mellan Linköpings universitet och VTI. Resande, planering, makt presenterar flera spännande nya perspektiv på resande och transporter.Boken vänder sig till alla som på något sätt arbetar med, forskar om eller intresserar sig för transporter och transportplanering. Några av de frågor som behandlas är kvinnors och äldres villkor i trafiken, regionförstoring, medborgarinflytande och riskhantering."En av den här bokens förtjänster är att den i hög grad handlar om olika aspekter av makt: makten att formulera problemen och makten att tolka förutsättningarna för beslut och planering."- Emin Tengström, professor emeritus, avdelningen för humanteknologi vid Göteborgs universitet.
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| 10. |
- Nordbakke, Susanne, et al.
(författare)
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Mobilitet og velferd blant bevegelseshemmede - bilens rolle
- 2009
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The project reported here has studied the role of the car for mobility and welfare among people with physical disabilities and barriers for car use in this group. A questionnaire study shows that there is a linkage between driving a car on a regular basis and degree of disability. Car drivers participate more often in out-of-home activities, and they have a higher fulfillment of travel needs, especially in regard to leisure travels, than people that do not drive. Our focus groups interviews show that the fulfillment of travel needs is essential to the quality of life. Furthermore, the same study shows that the private car has qualities beyond the fulfillment of travel needs, like control over one's own life, self-confidence and joy. The project has also revealed weaknesses in the regulations for assigning support for car purchase, for car adjustment, and for public car transport trips.
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