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An exome array study of the plasma metabolome

Author

Listed:
  • Eugene P. Rhee

    (Massachusetts General Hospital
    Massachusetts General Hospital
    Metabolite Profiling, Broad Institute of MIT and Harvard)

  • Qiong Yang

    (Boston University School of Public Health)

  • Bing Yu

    (Human Genetics Center, University of Texas Health Science Center at Houston)

  • Xuan Liu

    (Boston University School of Public Health)

  • Susan Cheng

    (National Heart, Lung and Blood Institute’s Framingham Heart Study
    Brigham and Women’s Hospital)

  • Amy Deik

    (Metabolite Profiling, Broad Institute of MIT and Harvard)

  • Kerry A. Pierce

    (Metabolite Profiling, Broad Institute of MIT and Harvard)

  • Kevin Bullock

    (Metabolite Profiling, Broad Institute of MIT and Harvard)

  • Jennifer E. Ho

    (Massachusetts General Hospital)

  • Daniel Levy

    (National Heart, Lung and Blood Institute’s Framingham Heart Study
    Population Sciences Branch, National Heart, Lung, and Blood Institute)

  • Jose C. Florez

    (Diabetes Research Center, Massachusetts General Hospital
    Center for Human Genetic Research, Massachusetts General Hospital
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard)

  • Sek Kathiresan

    (Massachusetts General Hospital
    Center for Human Genetic Research, Massachusetts General Hospital
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
    Cardiovascular Research Center, Massachusetts General Hospital)

  • Martin G. Larson

    (Boston University School of Public Health
    National Heart, Lung and Blood Institute’s Framingham Heart Study
    Boston University)

  • Ramachandran S. Vasan

    (National Heart, Lung and Blood Institute’s Framingham Heart Study
    Preventive Medicine and Epidemiology, Boston University School of Medicine)

  • Clary B. Clish

    (Metabolite Profiling, Broad Institute of MIT and Harvard)

  • Thomas J. Wang

    (Vanderbilt University Medical Center
    Vanderbilt Heart and Vascular Institute)

  • Eric Boerwinkle

    (Human Genetics Center, University of Texas Health Science Center at Houston
    Human Genome Sequencing Center, Baylor College of Medicine)

  • Christopher J. O’Donnell

    (National Heart, Lung and Blood Institute’s Framingham Heart Study
    Cardiology Section, Boston Veteran’s Administration Healthcare)

  • Robert E. Gerszten

    (Beth Israel Deaconess Medical Center)

Abstract

The study of rare variants may enhance our understanding of the genetic determinants of the metabolome. Here, we analyze the association between 217 plasma metabolites and exome variants on the Illumina HumanExome Beadchip in 2,076 participants in the Framingham Heart Study, with replication in 1,528 participants of the Atherosclerosis Risk in Communities Study. We identify an association between GMPS and xanthosine using single variant analysis and associations between HAL and histidine, PAH and phenylalanine, and UPB1 and ureidopropionate using gene-based tests (P

Suggested Citation

  • Eugene P. Rhee & Qiong Yang & Bing Yu & Xuan Liu & Susan Cheng & Amy Deik & Kerry A. Pierce & Kevin Bullock & Jennifer E. Ho & Daniel Levy & Jose C. Florez & Sek Kathiresan & Martin G. Larson & Ramach, 2016. "An exome array study of the plasma metabolome," Nature Communications, Nature, vol. 7(1), pages 1-7, November.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12360
    DOI: 10.1038/ncomms12360
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    Cited by:

    1. Xianyong Yin & Lap Sum Chan & Debraj Bose & Anne U. Jackson & Peter VandeHaar & Adam E. Locke & Christian Fuchsberger & Heather M. Stringham & Ryan Welch & Ketian Yu & Lilian Fernandes Silva & Susan K, 2022. "Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    2. Elena V. Feofanova & Michael R. Brown & Taryn Alkis & Astrid M. Manuel & Xihao Li & Usman A. Tahir & Zilin Li & Kevin M. Mendez & Rachel S. Kelly & Qibin Qi & Han Chen & Martin G. Larson & Rozenn N. L, 2023. "Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    3. Fernando Riveros-Mckay & Clare Oliver-Williams & Savita Karthikeyan & Klaudia Walter & Kousik Kundu & Willem H Ouwehand & David Roberts & Emanuele Di Angelantonio & Nicole Soranzo & John Danesh & INTE, 2020. "The influence of rare variants in circulating metabolic biomarkers," PLOS Genetics, Public Library of Science, vol. 16(3), pages 1-19, March.

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