University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Engineering
  • Computing and Information Systems
  • Computing and Information Systems - Research Publications
  • View Item
  • Minerva Access
  • Engineering
  • Computing and Information Systems
  • Computing and Information Systems - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

    Thumbnail
    Download
    Published version (536.5Kb)

    Citations
    Scopus
    Web of Science
    Altmetric
    34
    37
    Author
    Hoggart, CJ; Venturini, G; Mangino, M; Gomez, F; Ascari, G; Zhao, JH; Teumer, A; Winkler, TW; Tšernikova, N; Luan, J; ...
    Date
    2014-07
    Source Title
    PLoS Genetics
    Publisher
    Public Library of Science (PLoS)
    University of Melbourne Author/s
    Sinnott, Richard
    Affiliation
    Computing and Information Systems
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Hoggart, C. J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J. H., Teumer, A., Winkler, T. W., Tšernikova, N., Luan, J., Mihailov, E., Ehret, G. B., Zhang, W., Lamparter, D., Esko, T., Macé, A., Rüeger, S., Bochud, P. -Y., Barcella, M. ,... Kutalik, Z. (2014). Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.. PLoS Genet, 10 (7), pp.e1004508-. https://doi.org/10.1371/journal.pgen.1004508.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/254824
    DOI
    10.1371/journal.pgen.1004508
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117451
    Abstract
    The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [45770]
    • Computing and Information Systems - Research Publications [1456]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors