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    Whole-genome sequence-based analysis of thyroid function.

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    Author
    Taylor, PN; Porcu, E; Chew, S; Campbell, PJ; Traglia, M; Brown, SJ; Mullin, BH; Shihab, HA; Min, J; Walter, K; ...
    Date
    2015-03-06
    Source Title
    Nature Communications
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Kaye, Jane
    Affiliation
    Melbourne Law School
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., Memari, Y., Huang, J., Barnes, M. R., Beilby, J. P., Charoen, P., Danecek, P., Dudbridge, F., Forgetta, V., Greenwood, C. ,... UK0K Consortium (2015). Whole-genome sequence-based analysis of thyroid function.. Nat Commun, 6 (1), pp.5681-. https://doi.org/10.1038/ncomms6681.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255112
    DOI
    10.1038/ncomms6681
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366514
    Abstract
    Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335). For TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 × 10(-9)) and a new independent variant in PDE8B (MAF=10.4%, P=5.94 × 10(-14)). For FT4, we report a low-frequency variant near B4GALT6/SLC25A52 (MAF=3.2%, P=1.27 × 10(-9)) tagging a rare TTR variant (MAF=0.4%, P=2.14 × 10(-11)). All common variants explain ≥20% of the variance in TSH and FT4. Analysis of rare variants (MAF<1%) using sequence kernel association testing reveals a novel association with FT4 in NRG1. Our results demonstrate that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function.

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