SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Heid Iris) "

Sökning: WFRF:(Heid Iris)

  • Resultat 41-45 av 45
  • Föregående 1234[5]
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
41.
  • Pattaro, Cristian, et al. (författare)
  • Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
  • 2012
  • Ingår i: PLoS Genetics. - 1553-7390. ; 8:3, s. e1002584-
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
  •  
42.
  • Turcot, Valerie, et al. (författare)
  • Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
  • 2018
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
  •  
43.
  •  
44.
  • Willer, Cristen J., et al. (författare)
  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
  • 2009
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718. ; 41:1, s. 25-34
  • Tidskriftsartikel (refereegranskat)abstract
    • Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
  •  
45.
  • Yoneyama, Sachiko, et al. (författare)
  • Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations
  • 2014
  • Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906. ; 23:9, s. 2498-2510
  • Tidskriftsartikel (refereegranskat)abstract
    • Waist circumference (WC) and waist-to-hip ratio (WHR) are surrogate measures of central adiposity that are associated with adverse cardiovascular events, type 2 diabetes and cancer independent of body mass index (BMI). WC and WHR are highly heritable with multiple susceptibility loci identified to date. We assessed the association between SNPs and BMI-adjusted WC and WHR and unadjusted WC in up to 57 412 individuals of European descent from 22 cohorts collaborating with the NHLBIs Candidate Gene Association Resource (CARe) project. The study population consisted of women and men aged 2080 years. Study participants were genotyped using the ITMAT/Broad/CARE array, which includes 50 000 cosmopolitan tagged SNPs across 2100 cardiovascular-related genes. Each trait was modeled as a function of age, study site and principal components to control for population stratification, and we conducted a fixed-effects meta-analysis. No new loci for WC were observed. For WHR analyses, three novel loci were significantly associated (P 2.4 10(6)). Previously unreported rs2811337-G near TMCC1 was associated with increased WHR ( SE, 0.048 0.008, P 7.7 10(9)) as was rs7302703-G in HOXC10 ( 0.044 0.008, P 2.9 10(7)) and rs936108-C in PEMT ( 0.035 0.007, P 1.9 10(6)). Sex-stratified analyses revealed two additional novel signals among females only, rs12076073-A in SHC1 ( 0.10 0.02, P 1.9 10(6)) and rs1037575-A in ATBDB4 ( 0.046 0.01, P 2.2 10(6)), supporting an already established sexual dimorphism of central adiposity-related genetic variants. Functional analysis using ENCODE and eQTL databases revealed that several of these loci are in regulatory regions or regions with differential expression in adipose tissue.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 41-45 av 45
  • Föregående 1234[5]
Typ av publikation
tidskriftsartikel (45)
Typ av innehåll
refereegranskat (45)
Författare/redaktör
Heid, Iris M (54)
Loos, Ruth J F (40)
Uitterlinden, Andre ... (39)
Lindgren, Cecilia M. (38)
Van Duijn, Cornelia ... (37)
Chasman, Daniel I. (37)
visa fler...
Mohlke, Karen L (37)
Harris, Tamara B (36)
Feitosa, Mary F. (36)
Wareham, Nicholas J (35)
McCarthy, Mark I (35)
Ridker, Paul M. (35)
Hirschhorn, Joel N. (35)
Winkler, Thomas W. (35)
Esko, Tonu (34)
Wilson, James F. (33)
Jackson, Anne U. (33)
Pramstaller, Peter P ... (32)
Stringham, Heather M ... (32)
Collins, Francis S. (32)
O'Connell, Jeffrey R (30)
Morris, Andrew P (30)
North, Kari E (30)
Teumer, Alexander (29)
Strachan, David P (29)
Gieger, Christian (29)
Rudan, Igor (29)
Abecasis, Gonçalo R (29)
Hayward, Caroline (29)
Boerwinkle, Eric (29)
Kutalik, Zoltan (29)
Rivadeneira, Fernand ... (28)
Heard-Costa, Nancy L ... (28)
Gudnason, Vilmundur (27)
Montgomery, Grant W. (27)
Boehnke, Michael (27)
Wichmann, H. Erich (27)
Samani, Nilesh J. (27)
Luan, Jian'an (27)
Barroso, Ines (26)
Cupples, L. Adrienne (26)
Salomaa, Veikko (25)
Hicks, Andrew A. (25)
Wright, Alan F. (25)
Campbell, Harry (25)
Shuldiner, Alan R (25)
Vitart, Veronique (25)
Frayling, Timothy M (25)
Tuomilehto, Jaakko (25)
Swift, Amy J. (25)
visa färre...
Lärosäte
Lunds universitet (25)
Uppsala universitet (18)
Göteborgs universitet (14)
Umeå universitet (7)
Karolinska Institutet (6)
Högskolan Dalarna (4)
Språk
Engelska (45)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (37)
Naturvetenskap (3)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy