SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Nilsson Peter) "

Sökning: WFRF:(Nilsson Peter)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Palmer, Nicholette D, et al. (författare)
  • A genome-wide association search for type 2 diabetes genes in African Americans.
  • 2012
  • Ingår i: PLoS ONE. - San Francisco : Public Library of Science. - 1932-6203. ; 7:1, s. e29202
  • Tidskriftsartikel (refereegranskat)abstract
    • African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n?=?550 independent loci) were genotyped in a replication cohort and 122 SNPs (n?=?98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P?=?7.0×10(-9), OR (95% CI)?=?0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
2.
  • Ehret, Georg B., et al. (författare)
  • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
  • 2011
  • Ingår i: Nature. - Nature Publishing Group. - 1476-4687 .- 0028-0836. ; 478:7367, s. 103-109
  • Tidskriftsartikel (refereegranskat)abstract
    • Blood pressure is a heritable trait(1) influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>= 140 mm Hg systolic blood pressure or >= 90 mm Hg diastolic blood pressure)(2). Even small increments in blood pressure are associated with an increased risk of cardiovascular events(3). This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.
  •  
3.
  • Gaulton, Kyle J, et al. (författare)
  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
  • 2015
  • Ingår i: Nature Genetics. - 1061-4036. ; 47:12, s. 1415
  • Tidskriftsartikel (refereegranskat)abstract
    • We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
  •  
4.
  • Saxena, Richa, et al. (författare)
  • Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
  • 2010
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1061-4036. ; 42:2, s. 142-U75
  • Tidskriftsartikel (refereegranskat)abstract
    • Glucose levels 2 h after an oral glucose challenge are a clinical measure of glucose tolerance used in the diagnosis of type 2 diabetes. We report a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620). We identify variants at the GIPR locus associated with 2- h glucose level (rs10423928, beta (s.e.m.) = 0.09 (0.01) mmol/l per A allele, P = 2.0 x 10(-15)). The GIPR A-allele carriers also showed decreased insulin secretion (n = 22,492; insulinogenic index, P = 1.0 x 10(-17); ratio of insulin to glucose area under the curve, P = 1.3 x 10(-16)) and diminished incretin effect (n = 804; P = 4.3 x 10(-4)). We also identified variants at ADCY5 (rs2877716, P = 4.2 x 10(-16)), VPS13C (rs17271305, P = 4.1 x 10(-8)), GCKR (rs1260326, P = 7.1 x 10(-11)) and TCF7L2 (rs7903146, P = 4.2 x 10(-10)) associated with 2-h glucose. Of the three newly implicated loci (GIPR, ADCY5 and VPS13C), only ADCY5 was found to be associated with type 2 diabetes in collaborating studies (n = 35,869 cases, 89,798 controls, OR = 1.12, 95% CI 1.09-1.15, P = 4.8 x 10(-18)).
  •  
5.
  • Mahajan, Anubha, et al. (författare)
  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
  • 2014
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1061-4036. ; 46:3, s. 234
  • Tidskriftsartikel (refereegranskat)abstract
    • To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, even at SNPs demonstrating only weak evidence of association. By following up the strongest signals of association from the trans-ethnic meta-analysis in an additional 21,491 cases and 55,647 controls of European ancestry, we identified seven new T2D susceptibility loci. Furthermore, we observed considerable improvements in the fine-mapping resolution of common variant association signals at several T2D susceptibility loci. These observations highlight the benefits of trans-ethnic GWAS for the discovery and characterization of complex trait loci and emphasize an exciting opportunity to extend insight into the genetic architecture and pathogenesis of human diseases across populations of diverse ancestry.
  •  
6.
  • Nilsson, Peter, et al. (författare)
  • Imaging distinct conformational states of amyloid-? fibrils in Alzheimer's disease using novel luminescent probes
  • 2007
  • Ingår i: ACS Chemical Biology. - 1554-8929. ; 2:8, s. 553-560
  • Tidskriftsartikel (refereegranskat)abstract
    • Using luminescent conjugated polyelectrolyte probes (LCPs), we demonstrate the possibility to distinguish amyloid-? 1-42 peptide (A?1-42) fibril conformations, by analyzing in vitro generated amyloid fibrils of A?1-42 formed under quiescent and agitated conditions. LCPs were then shown to resolve such conformational heterogeneity of amyloid deposits in vivo. A diversity of amyloid deposits depending upon morphology and anatomic location was illustrated with LCPs in frozen ex vivo brain sections from a transgenic mouse model (tg-APPswe) of Alzheimer's disease. Comparative LCP fluorescence showed that compact-core plaques of amyloid ? precursor protein transgenic mice were composed of rigid dense amyloid. A more abundant form of amyloid plaque displayed morphology of a compact center with a protruding diffuse exterior. Surprisingly, the compact center of these plaques showed disordered conformations of the fibrils, and the exterior was composed of rigid amyloid protruding from the disordered center. This type of plaque appears to grow from more loosely assembled regions toward solidified amyloid tentacles. This work demonstrates how application of LCPs can prove helpful to monitor aggregate structure of in vivo formed amyloid deposits such as architecture, maturity, and origin.
  •  
7.
  • Voight, Benjamin F., et al. (författare)
  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
  • 2010
  • Ingår i: Nature Genetics. - Nature Publishing Group. - 1061-4036. ; 42:7, s. 579-U155
  • Tidskriftsartikel (refereegranskat)abstract
    • By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined P < 5 x 10(-8). These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A). The identified loci affect both beta-cell function and insulin action, and, overall, T2D association signals show evidence of enrichment for genes involved in cell cycle regulation. We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits.
  •  
8.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - 1465-6906. ; 15:3, s. R53
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
  •  
9.
  • Lord, Anna, et al. (författare)
  • Observations in APP Bitransgenic Mice Suggest thatDiffuse and Compact Plaques Form via IndependentProcesses in Alzheimer’s Disease
  • 2011
  • Ingår i: American Journal of Pathology. - Elsevier. - 0002-9440. ; 178:5, s. 2286-2298
  • Tidskriftsartikel (refereegranskat)abstract
    • Studies of familial Alzheimer's disease suggest that misfolding and aggregation of amyloid-? (A?) peptides initiate the pathogenesis. The Arctic mutation of A? precursor protein (APP) results in AD, and Arctic A? is more prone to form A? protofibrils and extracellular deposits. Herein is demonstrated that the burden of diffuse A? deposits but not compact plaques is increased when tg-Swe mice are crossed with tg-ArcSwe mice synthesizing low levels of Arctic A?. The diffuse deposits in bitransgenic mice, which contain primarily wild-type A?42, accumulate in regions both with and without transgene expression. However, APP processing, when compared with tg-Swe, remains unchanged in young bitransgenic mice, whereas wild-type A?42 aggregation is accelerated and fibril architecture is altered in vitro and in vivo when a low level of Arctic A?42 is introduced. Thus, the increased number of diffuse deposits is likely due to physical interactions between Arctic A? and wild-type A?42. The selective increase of a single type of parenchymal A? deposit suggests that different pathways lead to formation of diffuse and compact plaques. These findings could have general implications for Alzheimer's disease pathogenesis and particular relevance to patients heterozygous for the Arctic APP mutation. Moreover, it further illustrates how A? neuropathologic features can be manipulated in vivo by mechanisms similar to those originally conceptualized in prion research.
  •  
10.
  • Nilsson, Sven E., et al. (författare)
  • Långtidsöverlevnaden vid diabetes har successivt förbättrats. Lång sjukdomsduration kan ge information om protektiva möjligheter
  • 2005
  • Ingår i: Läkartidningen. - Sveriges Läkarförbund. - 0023-7205. ; 102:28, s. 2066-2070
  • Tidskriftsartikel (refereegranskat)abstract
    • Studies on patients with long-term diabetes survival without severe complications can give information about protective factors. Therefore, the present study aims to describe the long-term survival of patients with diabetes during successive periods following the introduction of insulin therapy in 1923. After registration in 1973 of the first local diabetic patient in Jonkoping with a fifty-year survival, this group has successively increased. Of those who were diagnosed during the period 1940 through 1949 there was a fifty-year survival in about one third. The successively better survival emphasises the importance of therapeutic progress. The study found no difference in diabetes control between those surviving 50 years and those with an age-matched group with a survival of 15 years. The insulin dose tended to decrease after 30 years duration. Peripheral vibration sensibility as well as renal function deteriorated by longer duration. The serum ratio of HDL-cholesterol to triglycerides increased. The frequency of glaucoma, cataract, and a history of myocardial infarction increased. In spite of long duration, one third of the sample had escaped serious retinopathy.
Skapa referenser, mejla, bekava och länka
Åtkomst
fritt online (388)
Typ av publikation
tidskriftsartikel (1364)
konferensbidrag (339)
annan publikation (101)
rapport (57)
bokkapitel (54)
forskningsöversikt (50)
visa fler...
bok (18)
doktorsavhandling (9)
patent (7)
samlingsverk (redaktörskap) (4)
licentiatavhandling (3)
proceedings (redaktörskap) (2)
konstnärligt arbete (1)
recension (1)
visa färre...
Typ av innehåll
refereegranskat (1634)
övrigt vetenskapligt (336)
populärvet., debatt m.m. (32)
Författare/redaktör
Nilsson, Peter (862)
Nilsson-Ehle, Peter (139)
Uhlén, Mathias, (75)
Melander, Olle (67)
Nilsson, Peter M., (56)
Hammarström, Per, (49)
visa fler...
Nilsson, Mats, (46)
Hedblad, Bo (46)
Schwenk, Jochen M., (46)
Boeing, Heiner (40)
Groop, Leif (40)
Engström, Gunnar (39)
Xu, Ning, (38)
Overvad, Kim (36)
Tumino, Rosario (36)
Berglund, Göran (34)
Riboli, Elio (33)
Sánchez, Maria-José (32)
Tjonneland, Anne (32)
Wareham, Nicholas J (32)
Almgren, Peter (32)
Langenberg, Claudia (31)
Rolandsson, Olov, (30)
Lyssenko, Valeriya (30)
Nilsson, Anders, (30)
Hagell, Peter (30)
Nilsson, John-Olof, (30)
Svedlindh, Peter, (28)
Händel, Peter, (28)
Larhed, Mats, (28)
Sacerdote, Carlotta (27)
Palli, Domenico (27)
Nilsson, Johan, (27)
van der Schouw, Yvon ... (27)
Torkelson, Mats (27)
Kaaks, Rudolf (26)
Nilsson, Ola, 1957-, (26)
Panico, Salvatore (25)
Strömme, Maria, (25)
Forouhi, Nita G. (25)
Khaw, Kay-Tee (24)
Nilsson, Maria H (24)
Laurent, Stéphane (24)
Nilsson, Peter, 1969 ... (24)
Ponten, Fredrik (23)
Ahlman, Håkan, 1947- ... (23)
Strömberg, Mattias, (23)
Cifkova, Renata (23)
Tuomi, Tiinamaija (22)
Sharp, Stephen J. (22)
visa färre...
Lärosäte
Lunds universitet (967)
Uppsala universitet (303)
Linköpings universitet (237)
Kungliga Tekniska Högskolan (199)
Umeå universitet (162)
Göteborgs universitet (155)
visa fler...
Karolinska Institutet (120)
Stockholms universitet (73)
Sveriges Lantbruksuniversitet (58)
Chalmers tekniska högskola (56)
Luleå tekniska universitet (50)
Högskolan Kristianstad (29)
Linnéuniversitetet (25)
Högskolan i Halmstad (18)
Malmö högskola (18)
Örebro universitet (18)
Mittuniversitetet (16)
Högskolan i Jönköping (14)
Högskolan Dalarna (10)
Mälardalens högskola (8)
Karlstads universitet (8)
VTI - Statens väg- och transportforskningsinstitut (7)
Högskolan i Skövde (6)
Södertörns högskola (5)
Högskolan i Gävle (5)
Gymnastik- och idrottshögskolan (4)
Konstfack (3)
Nationalmuseum (1)
Naturvårdsverket (1)
Naturhistoriska riksmuseet (1)
Handelshögskolan i Stockholm (1)
Försvarshögskolan (1)
Blekinge Tekniska Högskola (1)
visa färre...
Språk
Engelska (1760)
Svenska (197)
Tyska (2)
Odefinierat språk (2)
Ämne (HSV)
Medicin och hälsovetenskap (1051)
Teknik (396)
Naturvetenskap (345)
Samhällsvetenskap (129)
Lantbruksvetenskap (51)
Humaniora (29)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy