|Title||Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.|
|Publication Type||Journal Article|
|Year of Publication||2016|
|Authors||Yazdani, A, Yazdani, A, Liu, X, Boerwinkle, E|
|Date Published||2016 Sep|
We use whole genome sequence data and rare variant analysis methods to investigate a subset of the human serum metabolome, including 16 carnitine-related metabolites that are important components of mammalian energy metabolism. Medium pass sequence data consisting of 12,820,347 rare variants and serum metabolomics data were available on 1,456 individuals. By applying a penalization method, we identified two genes FGF8 and MDGA2 with significant effects on lysine and cis-4-decenoylcarnitine, respectively, using Δ-AIC and likelihood ratio test statistics. Single variant analyses in these regions did not identify a single low-frequency variant (minor allele count > 3) responsible for the underlying signal. The results demonstrate the utility of whole genome sequence and innovative analyses for identifying candidate regions influencing complex phenotypes.
|Alternate Journal||Genet. Epidemiol.|