SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:uu-223057"
 

Sökning: onr:"swepub:oai:DiVA.org:uu-223057" > A genome-wide asses...

A genome-wide assessment of variability in human serum metabolism

Hong, Mun-Gwan (författare)
Karlsson, Robert (författare)
Magnusson, Patrik K E (författare)
visa fler...
Lewis, Matthew R (författare)
Isaacs, William (författare)
Zheng, Lilly S (författare)
Xu, Jianfeng (författare)
Grönberg, Henrik (författare)
Ingelsson, Erik, 1975- (författare)
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
Pawitan, Yudi (författare)
Broeckling, Corey (författare)
Prenni, Jessica E (författare)
Wiklund, Fredrik (författare)
Prince, Jonathan A (författare)
visa färre...
2013
Engelska.
Ingår i: Human Mutation. - 1059-7794 .- 1098-1004. ; 34:3, s. 515-524
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • <p>The study of the genetic regulation of metabolism in human serum samples can contribute to a better understanding of the intermediate biological steps that lead from polymorphism to disease. Here, we conducted a genome-wide association study (GWAS) to discover metabolic quantitative trait loci (mQTLs) utilizing samples from a study of prostate cancer in Swedish men, consisting of 402 individuals (214 cases and 188 controls) in a discovery set and 489 case-only samples in a replication set. A global nontargeted metabolite profiling approach was utilized resulting in the detection of 6,138 molecular features followed by targeted identification of associated metabolites. Seven replicating loci were identified (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with associated sequence variants contributing significantly to trait variance for one or more metabolites (P = 10(-13) -10(-91)). Regional mQTL enrichment analyses implicated two loci that included FADS1 and a novel locus near PDGFC. Biological pathway analysis implicated ACADM, ACADS, ACAD8, ACAD10, ACAD11, and ACOXL, reflecting significant enrichment of genes with acyl-CoA dehydrogenase activity. mQTL SNPs and mQTL-harboring genes were over-represented across GWASs conducted to date, suggesting that these data may have utility in tracing the molecular basis of some complex disease associations.</p>

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  (hsv//swe)
MEDICAL AND HEALTH SCIENCES  (hsv//eng)

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)
ref (ämneskategori)

Hitta via bibliotek

Till lärosätets databas

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy