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  • Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

    Author(s)
    Justice, Anne E
    Karaderi, Tugce
    Highland, Heather M
    Young, Kristin L
    Graff, Mariaelisa
    Lu, Yingchang
    Turcot, Valerie
    Auer, Paul L
    Fine, Rebecca S
    Guo, Xiuqing
    Schurmann, Claudia
    Lempradl, Adelheid
    Marouli, Eirini
    Cox, Amanda J
    et al.
    Griffith University Author(s)
    Cox, Amanda J.
    Year published
    2019
    Metadata
    Show full item record
    Abstract
    Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose ...
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    Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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    Journal Title
    Nature Genetics
    Volume
    51
    Issue
    3
    DOI
    https://doi.org/10.1038/s41588-018-0334-2
    Subject
    Biological sciences
    Biomedical and clinical sciences
    Science & Technology
    Life Sciences & Biomedicine
    Genetics & Heredity
    GENOME-WIDE ASSOCIATION
    TYPE-2 DIABETES SUSCEPTIBILITY
    Publication URI
    http://hdl.handle.net/10072/387849
    Collection
    • Journal articles

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