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A genome-wide asses...
A genome-wide assessment of variability in human serum metabolism
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Hong, Mun-Gwan (author)
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- Karlsson, Robert (author)
- Karolinska Institutet
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- Magnusson, Patrik K E (author)
- Karolinska Institutet
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Lewis, Matthew R (author)
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Isaacs, William (author)
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Zheng, Lilly S (author)
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Xu, Jianfeng (author)
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- Grönberg, Henrik (author)
- Karolinska Institutet
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- Ingelsson, Erik, 1975- (author)
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
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- Pawitan, Yudi (author)
- Karolinska Institutet
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Broeckling, Corey (author)
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Prenni, Jessica E (author)
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- Wiklund, Fredrik (author)
- Karolinska Institutet
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- Prince, Jonathan A (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2013-03-05
- 2013
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 34:3, s. 515-524
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Hong, Mun-Gwan
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Karlsson, Robert
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Magnusson, Patri ...
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Lewis, Matthew R
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Isaacs, William
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Zheng, Lilly S
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show more...
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Xu, Jianfeng
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Grönberg, Henrik
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Ingelsson, Erik, ...
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Pawitan, Yudi
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Broeckling, Core ...
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Prenni, Jessica ...
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Wiklund, Fredrik
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Prince, Jonathan ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Human Mutation
- By the university
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Uppsala University
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Karolinska Institutet