Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis
Year: 2016
Type: article
Study design: Observational Study
Abstract: 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.
Source: Genetic Epidemiology
DOI: 10.1002/gepi.21980
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: G1052397333, G1135917780, G1243299691, G1527150935, G1691174148, G173303992, Baylor-Johns Hopkins Center for Mendelian Genetics, G1941623656, G2818629771, G3114902838, G3410686264, G3462919067, G3492333248, GWA for Gene-Environment Interaction Effects Influencing CHD, G384457986, The Human Genome Sequencing Center, G457330776, Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and Blood, Epidemiology of Venous Thrombosis and Pulmonary Embolism, Baylor Johns Hopkins Center for Mendelian Genetics, G5636245874, G567847597, G6418358350, G6548750934, Building on GWAS for NHLBI-disease: the CHARGE consortium, From GWAS loci to blood pressure genes, variants & mechanisms - Renewal
OpenAlex ID: W2412091225