SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Padyukov L) "

Sökning: WFRF:(Padyukov L)

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Munn-Chernoff, M. A., et al. (författare)
  • Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
  • 2020
  • Ingår i: Addiction Biology. - 1355-6215.
  • Tidskriftsartikel (refereegranskat)abstract
    • Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
  •  
2.
  • Bryois, J, et al. (författare)
  • Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
  • 2020
  • Ingår i: Nature Genetics. - 1061-4036. ; 52:5, s. 482-493
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
  •  
3.
  • Watson, H. J., et al. (författare)
  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
  • 2019
  • Ingår i: Nature Genetics. - 1061-4036. ; 51:8, s. 1207-
  • Tidskriftsartikel (refereegranskat)abstract
    • Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
  •  
4.
  •  
5.
  •  
6.
  •  
7.
  • López-Isac, Elena, et al. (författare)
  • GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
  • 2019
  • Ingår i: Nature communications. - 2041-1723. ; 10:1, s. 4955
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments. © 2019, The Author(s).
  •  
8.
  •  
9.
  •  
10.
  • Gyllenberg, Alexandra, et al. (författare)
  • Variability in the CIITA gene interacts with HLA in multiple sclerosis.
  • 2014
  • Ingår i: Genes and Immunity. - Nature Publishing Group. - 1476-5470. ; 15:3, s. 162-167
  • Tidskriftsartikel (refereegranskat)abstract
    • The human leukocyte antigen (HLA) is the main genetic determinant of multiple sclerosis (MS) risk. Within the HLA, the class II HLA-DRB1*15:01 allele exerts a disease-promoting effect, whereas the class I HLA-A*02 allele is protective. The CIITA gene is crucial for expression of class II HLA molecules and has previously been found to associate with several autoimmune diseases, including MS and type 1 diabetes. We here performed association analyses with CIITA in 2000 MS cases and up to 6900 controls as well as interaction analysis with HLA. We find that the previously investigated single-nucleotide polymorphism rs4774 is associated with MS risk in cases carrying the HLA-DRB1*15 allele (P=0.01, odds ratio (OR): 1.21, 95% confidence interval (CI): 1.04-1.40) or the HLA-A*02 allele (P=0.01, OR: 1.33, 95% CI: 1.07-1.64) and that these associations are independent of the adjacent confirmed MS susceptibility gene CLEC16A. We also confirm interaction between rs4774 and HLA-DRB1*15:01 such that individuals carrying the risk allele for rs4774 and HLA-DRB1*15:01 have a higher than expected risk for MS. In conclusion, our findings support previous data that variability in the CIITA gene affects MS risk, but also that the effect is modulated by MS-associated HLA haplotypes. These findings further underscore the biological importance of HLA for MS risk.Genes and Immunity advance online publication, 16 January 2014; doi:10.1038/gene.2013.71.
Skapa referenser, mejla, bekava och länka
Åtkomst
fritt online (15)
Typ av publikation
tidskriftsartikel (254)
konferensbidrag (48)
bokkapitel (1)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (241)
övrigt vetenskapligt (64)
Författare/redaktör
Padyukov, L, (295)
KLARESKOG, L, (143)
Alfredsson, L. (117)
Gregersen, PK (43)
Plenge, RM (33)
Kallberg, H, (31)
visa fler...
Padyukov, Leonid, (30)
Worthington, J (28)
Gunnarsson, I. (27)
Ding, B (27)
Svenungsson, E. (25)
Ronnelid, J (24)
Raychaudhuri, S (22)
Ronnblom, L., (21)
Huizinga, TWJ (20)
Lundberg, IE, (19)
Bengtsson, C (19)
Saevarsdottir, S, (18)
Martin, J (18)
Barton, A (18)
Rantapaa-Dahlqvist, ... (18)
Jonsen, A (17)
Hahn-Zoric, M (17)
Hanson, LA (17)
Lee, AT (15)
Nordmark, G (15)
Karlson, EW (15)
Stahl, EA (15)
Toes, REM (15)
Olsson, T. (14)
Kockum, I. (14)
Gonzalez-Gay, MA (14)
Criswell, LA (14)
Lundstrom, E. (14)
Malmstrom, V, (13)
Amos, CI (13)
Radstake, TRDJ (13)
De Vries, N (13)
Seielstad, M (13)
Bowes, J (13)
Grunewald, J, (12)
Eklund, A (12)
Sjowall, C (12)
Syvanen, AC (12)
Lundberg, K., (12)
Jönsen, Andreas, (11)
Franke, A (11)
Vencovsky, J (11)
Nordmark, Gunnel, (11)
Eyre, S (11)
visa färre...
Lärosäte
Karolinska Institutet (275)
Lunds universitet (25)
Göteborgs universitet (20)
Uppsala universitet (10)
Umeå universitet (8)
Linköpings universitet (6)
visa fler...
Kungliga Tekniska Högskolan (2)
Örebro universitet (2)
visa färre...
Språk
Engelska (303)
Odefinierat språk (1)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (68)
Naturvetenskap (3)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy