Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides

The current study is part of a large multi-investigator grant to look at the
pharmacogenetics of a number of membrane transporters. Previously, the investigators have
recruited a cohort of healthy volunteers (Studies of Pharmacogenetics in Ethnically-Diverse
Populations, or SOPHIE) and have resequenced the coding region of a number of membrane
transporter genes to identify genetic polymorphisms in these genes. Subjects in this cohort
have agreed to be called back for recruitment in further studies based on their own genetic
sequence, allowing the investigators the possibility to prospectively study the influence of
genetic polymorphisms on particular phenotypes (i.e., genotype-to-phenotype studies). The
investigators plan to take a genotype-to-phenotype approach to study the influence of
specific polymorphisms in the novel organic cation transporter 2 (OCTN2) gene on carnitine
and lipid metabolism in healthy subjects.