Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport

Genome-wide association studies have identified a signal at the SLC22A1 locus for serum acylcarnitines, intermediate metabolites of mitochondrial oxidation whose plasma levels associate with metabolic diseases. Here, we refined the association signal, performed conditional analyses, and examined the...

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Veröffentlicht in:	American journal of human genetics Jg. 101; H. 4; S. 489
Hauptverfasser:	Kim, Hye In, Raffler, Johannes, Lu, Wenyun, Lee, Jung-Jin, Abbey, Deepti, Saleheen, Danish, Rabinowitz, Joshua D, Bennett, Michael J, Hand, Nicholas J, Brown, Christopher, Rader, Daniel J
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States 05.10.2017
Schlagworte:	Alleles Alternative Splicing Animals Biological Transport Carnitine - analogs & derivatives Carnitine - blood Carnitine - pharmacokinetics Cells, Cultured Cohort Studies CRISPR-Cas Systems Female Gene Expression Regulation Genome-Wide Association Study High-Throughput Nucleotide Sequencing Humans Liver - metabolism Male Metabolic Diseases - blood Metabolic Diseases - genetics Metabolic Diseases - metabolism Metabolomics Mice Mice, Inbred BALB C Mice, Inbred C57BL Mice, Knockout Organic Cation Transporter 1 - antagonists & inhibitors Organic Cation Transporter 1 - genetics Organic Cation Transporter 1 - metabolism Polymorphism, Single Nucleotide Tissue Distribution metabolomics SLC22A1 metabolite GWAS genomics acylcarnitines fine mapping allelic imbalance
ISSN:	1537-6605, 1537-6605
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