SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Stefansson Kari) "

Sökning: WFRF:(Stefansson Kari)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
111.
  • Wain, Louise V., et al. (författare)
  • Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
  • 2011
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1546-1718. ; 43:10, s. 122-1005
  • Tidskriftsartikel (refereegranskat)abstract
    • Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans(1-3). We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 x 10(-8) to P = 2.3 x 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.
  •  
112.
  • Wang, Yufei, et al. (författare)
  • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
  • 2014
  • Ingår i: Nature Genetics. - 1061-4036. ; 46:7, s. 736-741
  • Tidskriftsartikel (refereegranskat)abstract
    • We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 x 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 x 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 x 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.
  •  
113.
  • Went, Molly, et al. (författare)
  • Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
  • 2019
  • Ingår i: Nature communications. - 2041-1723. ; 10:1, s. 213
  • Tidskriftsartikel (refereegranskat)abstract
    • The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, in the original HTML version of this Article, the order of authors within the author list was incorrect. The PRACTICAL consortium was incorrectly listed after Richard S. Houlston and should have been listed after Nora Pashayan. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
114.
  • Went, Molly, et al. (författare)
  • Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
  • 2018
  • Ingår i: Nature communications. - 2041-1723. ; 9:1, s. 3707
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM. © 2018, The Author(s).
115.
  • Willer, Cristen J., et al. (författare)
  • Discovery and refinement of loci associated with lipid levels
  • 2013
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 45:11, s. 1274-1283
  • Tidskriftsartikel (refereegranskat)abstract
    • Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 x 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.
  •  
116.
  • Wu, Xifeng, et al. (författare)
  • Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.
  • 2009
  • Ingår i: Nature genetics. - 1546-1718. ; 41:9, s. 991-5
  • Tidskriftsartikel (refereegranskat)abstract
    • We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus.
  •  
117.
  • Wuttke, Matthias, et al. (författare)
  • A catalog of genetic loci associated with kidney function from analyses of a million individuals
  • 2019
  • Ingår i: Nature Genetics. - NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
  •  
118.
  • Zheng, Hou-Feng, et al. (författare)
  • Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
  • 2015
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 526:7571, s. 112-
  • Tidskriftsartikel (refereegranskat)abstract
    • The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF <= 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants(1-8), as well as rare, population specific, coding variants(9). Here we identify novel non-coding genetic variants with large effects on BMD (n(total) = 53,236) and fracture (n(total) = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD8 (rs11692564(T), MAF51.6%, replication effect size510.20 s.d., P-meta = 2 x 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 x 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1cre/flox mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size +10.41 s.d., P-meta = 1 x 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
  •  
119.
  •  
Skapa referenser, mejla, bekava och länka
Åtkomst
fritt online (33)
Typ av publikation
tidskriftsartikel (118)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (119)
Författare/redaktör
Stefansson, Kari (119)
Thorsteinsdottir, Un ... (92)
Thorleifsson, Gudmar (84)
Uitterlinden, Andre ... (49)
Hofman, Albert, (46)
Salomaa, Veikko (44)
visa fler...
Wareham, Nicholas J. (41)
Boehnke, Michael (40)
Metspalu, Andres (39)
Van Duijn, Cornelia ... (38)
McCarthy, Mark I (38)
Gieger, Christian (36)
Loos, Ruth J. F. (36)
Esko, Tonu (35)
Steinthorsdottir, Va ... (35)
Rivadeneira, Fernand ... (33)
Hayward, Caroline (33)
Wilson, James F. (33)
Luan, Jian'an (32)
Boerwinkle, Eric (32)
Deloukas, Panos (31)
Mohlke, Karen L (31)
Ingelsson, Erik (31)
Rudan, Igor (31)
Lindgren, Cecilia M. (31)
Laakso, Markku, (30)
Langenberg, Claudia (30)
Barroso, Ines (30)
Tuomilehto, Jaakko (30)
Kong, Augustine (30)
Boomsma, Dorret I., (29)
Kuusisto, Johanna, (29)
Zhao, Jing Hua (29)
Perola, Markus (29)
Morris, Andrew P. (29)
Collins, Francis S. (29)
Harris, Tamara B. (29)
Gudnason, Vilmundur, (28)
Jackson, Anne U. (28)
Illig, Thomas (28)
Sulem, Patrick (28)
Lind, Lars, (27)
Psaty, Bruce M., (27)
Willemsen, Gonneke (27)
Campbell, Harry (27)
Amin, Najaf, (26)
Samani, Nilesh J. (26)
Prokopenko, Inga (26)
Gudbjartsson, Daníel ... (26)
Vollenweider, Peter, (26)
visa färre...
Lärosäte
Lunds universitet (76)
Karolinska Institutet (66)
Uppsala universitet (57)
Umeå universitet (36)
Göteborgs universitet (27)
Högskolan Dalarna (3)
visa fler...
Örebro universitet (2)
Stockholms universitet (2)
Högskolan Kristianstad (1)
Mälardalens högskola (1)
visa färre...
Språk
Engelska (119)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (114)
Naturvetenskap (11)
Samhällsvetenskap (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy