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Heterozygous RFX6 p...
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
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- Patel, Kashyap A. (författare)
- University of Exeter
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- Kettunen, Jarno (författare)
- University of Helsinki,Helsinki University Central Hospital
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- Laakso, Markku (författare)
- University of Eastern Finland,Kuopio University Hospital
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- Stančáková, Alena (författare)
- University of Eastern Finland
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- Laver, Thomas W. (författare)
- University of Exeter
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- Colclough, Kevin (författare)
- Royal Devon & Exeter Hospital
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- Johnson, Matthew B. (författare)
- University of Exeter
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- Abramowicz, Marc (författare)
- Université Libre de Bruxelles (ULB)
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- Groop, Leif (författare)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Institute for Molecular Medicine Finland (FIMM),University of Helsinki,Skåne University Hospital
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- Miettinen, Païvi J. (författare)
- Helsinki University Central Hospital,University of Helsinki
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- Shepherd, Maggie H. (författare)
- University of Exeter
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- Flanagan, Sarah E (författare)
- University of Exeter
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- Ellard, Sian (författare)
- University of Exeter
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- Inagaki, Nobuya (författare)
- Kyoto University
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- Hattersley, Andrew T. (författare)
- University of Exeter
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- Tuomi, Tiinamaija (författare)
- Institute for Molecular Medicine Finland (FIMM),Helsinki University Central Hospital,University of Helsinki
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- Cnop, Miriam (författare)
- Université Libre de Bruxelles (ULB)
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- Weedon, Michael N. (författare)
- University of Exeter
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(creator_code:org_t)
- 2017-10-12
- 2017
- Engelska.
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://www.nature.c...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
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- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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- ref (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Patel, Kashyap A ...
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Kettunen, Jarno
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Laakso, Markku
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Stančáková, Alen ...
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Laver, Thomas W.
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Colclough, Kevin
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visa fler...
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Johnson, Matthew ...
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Abramowicz, Marc
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Groop, Leif
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Miettinen, Païvi ...
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Shepherd, Maggie ...
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Flanagan, Sarah ...
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Ellard, Sian
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Inagaki, Nobuya
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Hattersley, Andr ...
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Tuomi, Tiinamaij ...
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Cnop, Miriam
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Weedon, Michael ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Endokrinologi oc ...
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Nature Communica ...
- Av lärosätet
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Lunds universitet