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Article

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

American journal of human genetics - 5 Oct 2017

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

Abstract excerpt

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 linkage structure to find coding variants of SLC22A1 that mediate independent association signals at the locus. We...

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Identifiers

PMID: 28942964
DOI: 10.1016/j.ajhg.2017.08.008
PMCID: PMC5630162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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