SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Blangero J) "

Sökning: WFRF:(Blangero J)

  • Resultat 31-36 av 36
  • Föregående 123[4]
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
31.
  • Mahajan, Anubha, et al. (författare)
  • Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus.
  • 2015
  • Ingår i: PLoS Genetics. - : Public Library of Science. - 1553-7404 .- 1553-7390. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic variance. To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P<5×10-7) evidence for two loci not previously highlighted by common variant GWAS: GLP1R (p.Ala316Thr, minor allele frequency (MAF)=1.5%) influencing FG levels, and URB2 (p.Glu594Val, MAF = 0.1%) influencing FI levels. Coding variant associations can highlight potential effector genes at (non-coding) GWAS signals. At the G6PC2/ABCB11 locus, we identified multiple coding variants in G6PC2 (p.Val219Leu, p.His177Tyr, and p.Tyr207Ser) influencing FG levels, conditionally independent of each other and the non-coding GWAS signal. In vitro assays demonstrate that these associated coding alleles result in reduced protein abundance via proteasomal degradation, establishing G6PC2 as an effector gene at this locus. Reconciliation of single-variant associations and functional effects was only possible when haplotype phase was considered. In contrast to earlier reports suggesting that, paradoxically, glucose-raising alleles at this locus are protective against type 2 diabetes (T2D), the p.Val219Leu G6PC2 variant displayed a modest but directionally consistent association with T2D risk. Coding variant associations for glycemic traits in GWAS signals highlight PCSK1, RREB1, and ZHX3 as likely effector transcripts. These coding variant association signals do not have a major impact on the trait variance explained, but they do provide valuable biological insights.
  •  
32.
  •  
33.
  •  
34.
  • Liu, Ching-Ti, et al. (författare)
  • Assessment of gene-by-sex interaction effect on bone mineral density
  • 2012
  • Ingår i: Journal of Bone and Mineral Research. - : AMBMR. - 1523-4681. ; 27:10, s. 2051-2064
  • Tidskriftsartikel (refereegranskat)abstract
    • Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?
  •  
35.
  • Chu, Audrey Y, et al. (författare)
  • Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:1, s. 125-130
  • Tidskriftsartikel (refereegranskat)abstract
    • Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits). In total, we identified seven new loci associated with ectopic-fat traits (ATXN1, UBE2E2, EBF1, RREB1, GSDMB, GRAMD3 and ENSA; P < 5 × 10(-8); false discovery rate < 1%). Functional analysis of these genes showed that loss of function of either Atxn1 or Ube2e2 in primary mouse adipose progenitor cells impaired adipocyte differentiation, suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis. Future studies are necessary to further explore the mechanisms by which these genes affect adipocyte biology and how their perturbations contribute to systemic metabolic disease.
  •  
36.
  • Fenstad, M H, et al. (författare)
  • STOX2 but not STOX1 is differentially expressed in decidua from pre-eclamptic women : data from the Second Nord-Trondelag Health Study
  • 2010
  • Ingår i: Molecular human reproduction. - 1360-9947 .- 1460-2407. ; 16:12, s. 960-968
  • Tidskriftsartikel (refereegranskat)abstract
    • Variation in the Storkhead box-1 (STOX1) gene has previously been associated with pre-eclampsia. In this study, we assess candidate single nucleotide polymorphisms (SNPs) in STOX1 in an independent population cohort of pre-eclamptic (n = 1.139) and non-pre-eclamptic (n = 2.269) women (the HUNT2 study). We also compare gene expression levels of STOX1 and its paralogue, Storkhead box-2 (STOX2) in decidual tissue from pregnancies complicated by pre-eclampsia and/or fetal growth restriction (FGR) (n = 40) to expression levels in decidual tissue from uncomplicated pregnancies (n = 59). We cannot confirm association of the candidate SNPs to pre-eclampsia (P > 0.05). For STOX1, no differential gene expression was observed in any of the case groups, whereas STOX2 showed significantly lower expression in deciduas from pregnancies complicated by both pre-eclampsia and FGR as compared with controls (P = 0.01). We further report a strong correlation between transcriptional alterations reported previously in choriocarcinoma cells over expressing STOX1A and alterations observed in decidual tissue of pre-eclamptic women with FGR.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 31-36 av 36
  • Föregående 123[4]
Typ av publikation
tidskriftsartikel (36)
Typ av innehåll
refereegranskat (35)
övrigt vetenskapligt (1)
Författare/redaktör
Blangero, John (28)
Blangero, J (28)
Wareham, Nicholas J (23)
Scott, Robert A (23)
Teumer, A (22)
McCarthy, Mark I (22)
visa fler...
Mohlke, Karen L (22)
Lindgren, Cecilia M. (22)
Uitterlinden, Andre ... (21)
Loos, Ruth J F (21)
Morris, Andrew P (21)
Van Duijn, Cornelia ... (20)
Franks, Paul W (19)
Raitakari, Olli T (19)
Hartman, Catharina A ... (19)
Stancáková, Alena (19)
Harris, Tamara B (19)
Feitosa, Mary F. (19)
Hottenga, JJ (18)
Boomsma, DI (18)
Boomsma, Dorret I. (18)
De Geus, Eco J. C. (18)
Martin, NG (18)
Barroso, Ines (18)
Cupples, L. Adrienne (18)
Teumer, Alexander (17)
Martin, Nicholas G. (17)
Gudnason, V (17)
Wilson, James F. (17)
Mahajan, Anubha (17)
Esko, Tonu (17)
Ong, Ken K. (17)
Frayling, Timothy M (17)
Hottenga, Jouke-Jan (16)
Montgomery, Grant W. (16)
De Geus, EJC (16)
Kuusisto, Johanna (16)
Laakso, Markku (16)
Ridker, Paul M. (16)
Chasman, Daniel I. (16)
Rose, Lynda M (16)
Langenberg, Claudia (16)
Boehnke, Michael (16)
Mangino, Massimo (16)
Spector, Tim D. (16)
O'Connell, Jeffrey R (16)
North, Kari E (16)
Hirschhorn, Joel N. (16)
Yengo, Loic (16)
Winkler, Thomas W. (16)
visa färre...
Lärosäte
Umeå universitet (15)
Göteborgs universitet (12)
Lunds universitet (12)
Karolinska Institutet (11)
Uppsala universitet (9)
Stockholms universitet (2)
Språk
Engelska (36)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (28)
Naturvetenskap (4)
Samhällsvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy