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 |
Journal | Genet Epidemiol |
Volume | 40 |
Issue | 6 |
Pagination | 486-91 |
Date Published | 2016 Sep |
ISSN | 1098-2272 |
Keywords | Biomarkers, Carnitine, Female, Fibroblast Growth Factor 8, Genetic Variation, GPI-Linked Proteins, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, Lysine, Male, Metabolomics, Middle Aged, Neural Cell Adhesion Molecules, Polymorphism, Single Nucleotide, Sequence Analysis, DNA |
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. |
DOI | 10.1002/gepi.21980 |
Alternate Journal | Genet Epidemiol |
PubMed ID | 27256581 |
PubMed Central ID | PMC5609480 |
Grant List | HHSN268201100012C / HL / NHLBI NIH HHS / United States RC2 HL102419 / HL / NHLBI NIH HHS / United States HHSN268201100009I / HL / NHLBI NIH HHS / United States HHSN268201100010C / HL / NHLBI NIH HHS / United States HHSN268201100008C / HL / NHLBI NIH HHS / United States U54 HG006542 / HG / NHGRI NIH HHS / United States HHSN268201100005G / HL / NHLBI NIH HHS / United States HHSN268201100008I / HL / NHLBI NIH HHS / United States R01 HL059367 / HL / NHLBI NIH HHS / United States HHSN268201100007C / HL / NHLBI NIH HHS / United States HHSN268201100011I / HL / NHLBI NIH HHS / United States HHSN268201100011C / HL / NHLBI NIH HHS / United States R01 HL086694 / HL / NHLBI NIH HHS / United States U01 HG004402 / HG / NHGRI NIH HHS / United States UM1 HG006542 / HG / NHGRI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States HHSN268201100006C / HL / NHLBI NIH HHS / United States HHSN268201100005I / HL / NHLBI NIH HHS / United States HHSN268201100009C / HL / NHLBI NIH HHS / United States HHSN268201100005C / HL / NHLBI NIH HHS / United States HHSN268201100007I / HL / NHLBI NIH HHS / United States R01 HL087641 / HL / NHLBI NIH HHS / United States |
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis.
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