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Taylor, Peter N.; Porcu, Eleonora; Chew, Shelby; Campbell, Purdey J.; Traglia, Michela; Brown, Suzanne J.; Mullin, Benjamin H.; Shihab, Hashem A.; Min, Josine; Walter, Klaudia; Memari, Yasin; Huang, Jie; Barnes, Michael R.; Beilby, John P.; Charoen, Pimphen; Danecek, Petr; Dudbridge, Frank; Forgetta, Vincenzo; Greenwood, Celia; Grundberg, Elin; Johnson, Andrew D.; Hui, Jennie; Lim, Ee M.; McCarthy, Shane; [...]

Whole-genome sequence-based analysis of thyroid function

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  • Medientyp: E-Artikel
  • Titel: Whole-genome sequence-based analysis of thyroid function
  • Beteiligte: Taylor, Peter N.; Porcu, Eleonora; Chew, Shelby; Campbell, Purdey J.; Traglia, Michela; Brown, Suzanne J.; Mullin, Benjamin H.; Shihab, Hashem A.; Min, Josine; Walter, Klaudia; Memari, Yasin; Huang, Jie; Barnes, Michael R.; Beilby, John P.; Charoen, Pimphen; Danecek, Petr; Dudbridge, Frank; Forgetta, Vincenzo; Greenwood, Celia; Grundberg, Elin; Johnson, Andrew D.; Hui, Jennie; Lim, Ee M.; McCarthy, Shane; [...]
  • Erschienen: Springer Science and Business Media LLC, 2015
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/ncomms6681
  • ISSN: 2041-1723
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 (<jats:italic>N</jats:italic>=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 (<jats:italic>N</jats:italic>=16,335). For TSH, we identify a novel variant in <jats:italic>SYN2</jats:italic> (MAF=23.5%, <jats:italic>P</jats:italic>=6.15 × 10<jats:sup>−9</jats:sup>) and a new independent variant in <jats:italic>PDE8B</jats:italic> (MAF=10.4%, <jats:italic>P</jats:italic>=5.94 × 10<jats:sup>−14</jats:sup>). For FT4, we report a low-frequency variant near <jats:italic>B4GALT6/SLC25A52</jats:italic> (MAF=3.2%, <jats:italic>P</jats:italic>=1.27 × 10<jats:sup>−9</jats:sup>) tagging a rare <jats:italic>TTR</jats:italic> variant (MAF=0.4%, <jats:italic>P</jats:italic>=2.14 × 10<jats:sup>−11</jats:sup>). All common variants explain ≥20% of the variance in TSH and FT4. Analysis of rare variants (MAF&lt;1%) using sequence kernel association testing reveals a novel association with FT4 in <jats:italic>NRG1.</jats:italic> Our results demonstrate that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function.</jats:p>
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