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1.	Zillikens, M Carola, et al. (author) Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. 2017 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1 Journal article (peer-reviewed)abstract A correction to this article has been published and is linked from the HTML version of this article.
2.	Patel, Kashyap A., et al. (author) Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance 2017 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1 Journal article (peer-reviewed)abstract Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants. RFX6 protein truncating variants are enriched in the MODY discovery cohort compared to the European control population within ExAC (odds ratio = 131, P = 1 × 10-4). We find similar results in non-Finnish European (n = 348, odds ratio = 43, P = 5 × 10-5) and Finnish (n = 80, odds ratio = 22, P = 1 × 10-6) replication cohorts. RFX6 heterozygotes have reduced penetrance of diabetes compared to common HNF1A and HNF4A-MODY mutations (27, 70 and 55% at 25 years of age, respectively). The hyperglycaemia results from beta-cell dysfunction and is associated with lower fasting and stimulated gastric inhibitory polypeptide (GIP) levels. Our study demonstrates that heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Stancáková, Alena (2); Laakso, Markku (2); Hoffman, Eric P (1); Khaw, Kay-Tee (1); Karlsson, Magnus (1); Tuomi, Tiinamaija (1); show more...; Groop, Leif (1); Vandenput, Liesbeth, ... (1); Lorentzon, Mattias, ... (1); Salomaa, Veikko (1); Jula, Antti (1); Perola, Markus (1); Lind, Lars (1); Ellard, Sian (1); Soranzo, Nicole (1); Campbell, Harry (1); Rudan, Igor (1); Ohlsson, Claes, 1965 (1); Wareham, Nicholas J. (1); Kuusisto, Johanna (1); Kilpeläinen, Tuomas ... (1); Eriksson, Joel (1); Amin, Najaf (1); van Duijn, Cornelia ... (1); Boehnke, Michael (1); Ingelsson, Erik (1); Ripatti, Samuli (1); Tuomilehto, Jaakko (1); Thorleifsson, Gudmar (1); Thorsteinsdottir, Un ... (1); Stefansson, Kari (1); Kraus, William E. (1); Rotter, Jerome I. (1); Melhus, Håkan (1); Mellström, Dan, 1945 (1); Broer, Linda (1); Oostra, Ben A. (1); Gieger, Christian (1); Peters, Annette (1); Wichmann, H. Erich (1); Barroso, Ines (1); Flanagan, Sarah E (1); Hattersley, Andrew T (1); Walker, Mark (1); Spector, Timothy D (1); Luan, Jian'an (1); Cnop, Miriam (1); Hsu, Yi-Hsiang (1); Meitinger, Thomas (1); Wilson, James F. (1); show less...

University: University of Gothenburg (1); Lund University (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

Year: 2017 (2)Undo refine

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