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Träfflista för sökning "WFRF:(Porteous D) "

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Numrering	Referens	Omslagsbild	Hitta
21.	Davies, G., et al. (författare) Genetic contributions to variation in general cognitive function : a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) 2015 Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 20:2, s. 183-192 Tidskriftsartikel (refereegranskat)abstract General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health-and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N = 53 949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P = 3.93 x 10(-9), MIR2113; rs17522122, P = 2.55 x 10(-8), AKAP6; rs10119, P = 5.67 x 10(-9), APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P = 1x10(-6)). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N = 6617) and the Health and Retirement Study (N = 5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e. = 5%) and 28% (s.e. = 7%), respectively. Using polygenic prediction analysis, similar to 1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N = 5487; P = 1.5 x 10(-17)). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.
22.	Blein, S, et al. (författare) An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers 2015 Ingår i: Breast cancer research : BCR. - : Springer Science and Business Media LLC. - 1465-542X .- 1465-5411. ; 17, s. 61- Tidskriftsartikel (refereegranskat)
23.	Patel, VL, et al. (författare) Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness 2020 Ingår i: Cancer research. - 1538-7445. ; 80:3, s. 624-638 Tidskriftsartikel (refereegranskat)
24.	Ramus, SJ, et al. (författare) Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers 2011 Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 103:2, s. 105-16 Tidskriftsartikel (refereegranskat)
25.	Ramus, SJ, et al. (författare) Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers 2012 Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:4, s. 690-702 Tidskriftsartikel (refereegranskat)
26.	Yengo, L, et al. (författare) A saturated map of common genetic variants associated with human height 2022 Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 610:7933, s. 704- Tidskriftsartikel (refereegranskat)
27.	Day, FR, et al. (författare) Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk 2017 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:6, s. 834- Tidskriftsartikel (refereegranskat)
28.	Linner, RK, et al. (författare) Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences 2019 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 51:2, s. 245- Tidskriftsartikel (refereegranskat)
29.	Warren, HR, et al. (författare) Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk 2017 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49:3, s. 403-415 Tidskriftsartikel (refereegranskat)
30.	Artigas Soler, María, et al. (författare) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 2011 Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1082-90 Tidskriftsartikel (refereegranskat)abstract Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.

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Resultat 21-30 av 128

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Typ av publikation: tidskriftsartikel (124); konferensbidrag (3)

Typ av innehåll: refereegranskat (118); övrigt vetenskapligt/konstnärligt (9)

Författare/redaktör: Hayward, C. (50); Metspalu, A (33); Teumer, A (32); Martin, NG (30); Campbell, A (30); Esko, T (30); visa fler...; Montgomery, GW (27); Hottenga, JJ (26); Uitterlinden, AG (26); Stefansson, K (25); Milaneschi, Y (24); Wu, Y. (23); Willemsen, G (23); Kutalik, Z. (23); Penninx, BWJH (22); Nauck, M (22); Davies, G (21); Homuth, G (21); Polašek, O. (21); Rudan, I. (21); Boomsma, DI (20); Breen, G (20); Lind, Lars (20); Gudnason, V (20); Deary, IJ (20); Easton, DF (20); Wilson, JF (20); Benitez, J. (19); Yang, J. (19); Medland, SE (19); Pistis, G (19); Andrulis, IL (19); Nevanlinna, H (19); Chenevix-Trench, G (19); Boerwinkle, E (19); Campbell, H (19); Sullivan, PF (18); Pedersen, NL (18); Peterlongo, P (18); McIntosh, AM (18); Wray, NR (18); Rudan, Igor (18); Hamann, U (18); Radice, P (18); Simard, J (18); Ripke, S (18); Meindl, A (18); Padmanabhan, S. (18); Antoniou, AC (18); Gill, M. (18); visa färre...

Lärosäte: Karolinska Institutet (96); Uppsala universitet (56); Lunds universitet (36); Göteborgs universitet (23); Umeå universitet (22); Handelshögskolan i Stockholm (7); visa fler...; Linköpings universitet (6); Stockholms universitet (3); Högskolan Dalarna (3); Jönköping University (2); Malmö universitet (1); Marie Cederschiöld högskola (1); visa färre...

Språk: Engelska (128)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (71); Naturvetenskap (11); Samhällsvetenskap (1)

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