| 1. |
- 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. |
- Eklund, Patrik, et al.
(författare)
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Powersets of terms and composite monads
- 2007
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Ingår i: Fuzzy sets and systems (Print). - Amsterdam : North-Holland. - 0165-0114 .- 1872-6801. ; 158:23, s. 2552-2574
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Tidskriftsartikel (refereegranskat)abstract
- Composing various powerset functors with the term monad gives rise to the concept of generalized terms. This in turn provides a technique for handling many-valued sets of terms in a framework of variable substitutions, thus being the prerequisite for categorical unification in many-valued logic programming using an extended notion of terms. As constructions of monads involve complicated calculations with natural transformations, proofs are supported by a graphical approach that provides a useful tool for handling various conditions, such as those well known for distributive laws. (C) 2007 Elsevier B.V. All rights reserved.
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| 3. |
- Kathiresan, Sekar, et al.
(författare)
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Common variants at 30 loci contribute to polygenic dyslipidemia
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 56-65
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Tidskriftsartikel (refereegranskat)abstract
- Blood low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglyceride levels are risk factors for cardiovascular disease. To dissect the polygenic basis of these traits, we conducted genome-wide association screens in 19,840 individuals and replication in up to 20,623 individuals. We identified 30 distinct loci associated with lipoprotein concentrations (each with P < 5 x 10(-8)), including 11 loci that reached genome-wide significance for the first time. The 11 newly defined loci include common variants associated with LDL cholesterol near ABCG8, MAFB, HNF1A and TIMD4; with HDL cholesterol near ANGPTL4, FADS1-FADS2-FADS3, HNF4A, LCAT, PLTP and TTC39B; and with triglycerides near AMAC1L2, FADS1-FADS2-FADS3 and PLTP. The proportion of individuals exceeding clinical cut points for high LDL cholesterol, low HDL cholesterol and high triglycerides varied according to an allelic dosage score (P < 10(-15) for each trend). These results suggest that the cumulative effect of multiple common variants contributes to polygenic dyslipidemia.
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| 4. |
- Newton-Cheh, Christopher, et al.
(författare)
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Genome-wide association study identifies eight loci associated with blood pressure
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:6, s. 666-676
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Tidskriftsartikel (refereegranskat)abstract
- Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N <= 71,225 European ancestry, N <= 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 x 10(-24)), CYP1A2 (P = 1 x 10(-23)), FGF5 (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF652 (P = 5 x 10(-9)) and PLCD3 (P = 1 x 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
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| 5. |
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| 6. |
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| 7. |
- Eklund, Patrik, et al.
(författare)
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Categorical innovations for rough sets
- 2009
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Ingår i: Rough set theory. - Berlin/Heidelberg : Springer Berlin/Heidelberg. - 9783540899204 - 9783540899211 ; , s. 45-69
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Categories arise in mathematics and appear frequently in computer science where algebraic and logical notions have powerful representations using categorical constructions. In this chapter we lean towards the functorial view involving natural transformations and monads. Functors extendable to monads, further incorporating order structure related to the underlying functor, turn out to be very useful when presenting rough sets beyond relational structures in the usual sense. Relations can be generalized with rough set operators largely maintaining power and properties. In this chapter we set forward our required categorical tools and we show how rough sets and indeed a theory of rough monads can be developed. These rough monads reveal some canonic structures, and are further shown to be useful in real applications as well. Information within pharmacological treatment can be structured by rough set approaches. In particular, situations involving management of drug interactions and medical diagnosis can be described and formalized using rough monads.
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| 8. |
- Eklund, Patrik, 1958-, et al.
(författare)
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On fuzzy successors
- 2008
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Konferensbidrag (refereegranskat)
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| 9. |
- Eklund, Patrik, 1958-, et al.
(författare)
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Paradigms for non-classical substitutions
- 2009
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Ingår i: 39th IEEE International Symposium on Multiple-Valued Logic (ISMVL 2009). - 9781424438419 ; , s. 77-79
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Konferensbidrag (refereegranskat)
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| 10. |
- Eklund, Patrik, 1958-, et al.
(författare)
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Partially ordered monads for monadic topologies, Kleene algebras and rough sets
- 2009
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Ingår i: Electronic Notes in Theoretical Computer Science. - : Elsevier. - 1571-0661. ; 225, s. 67-81
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Tidskriftsartikel (refereegranskat)abstract
- In this paper we will show that partially ordered monads contain sufficient structure for modelling monadic topologies, rough sets and Kleene algebras. Convergence represented by extension structures over partially ordered monads includes notions of regularity and compactness. A compactification theory can be developed. Rough sets [Z. Pawlak, Rough sets, Int. J. Computer and Information Sciences 5 (1982) 341356] are modelled in a generalized setting with set functors. Further, we show how partially ordered monads can be used in order to obtain monad based examples of Kleene algebras building upon a wide range of set functors far beyond just strings [S. C. Kleene, Representation of events in nerve nets and finite automata, In: Automata Studies (Eds. C. E. Shannon, J. McCarthy), Princeton University Press, 1956, 3-41] and relations [A. Tarski, On the calculus of relations, J. Symbolic Logic 6 (1941), 65-106].
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