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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Vydáno v:	American journal of human genetics Ročník 101; číslo 4; s. 489
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 05.10.2017
Témata:	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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