Search: (WFRF:(Weedon Michael N)) srt2:(2015-2019) >
Heterozygous RFX6 p...
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
-
- Patel, Kashyap A. (author)
- University of Exeter
-
- Kettunen, Jarno (author)
- University of Helsinki,Helsinki University Central Hospital
-
- Laakso, Markku (author)
- University of Eastern Finland,Kuopio University Hospital
-
show more...
-
- Stančáková, Alena (author)
- University of Eastern Finland
-
- Laver, Thomas W. (author)
- University of Exeter
-
- Colclough, Kevin (author)
- Royal Devon & Exeter Hospital
-
- Johnson, Matthew B. (author)
- University of Exeter
-
- Abramowicz, Marc (author)
- Université Libre de Bruxelles (ULB)
-
- Groop, Leif (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital,Institute for Molecular Medicine Finland (FIMM)
-
- Miettinen, Païvi J. (author)
- University of Helsinki,Helsinki University Central Hospital
-
- Shepherd, Maggie H. (author)
- University of Exeter
-
- Flanagan, Sarah E (author)
- University of Exeter
-
- Ellard, Sian (author)
- University of Exeter
-
- Inagaki, Nobuya (author)
- Kyoto University
-
- Hattersley, Andrew T. (author)
- University of Exeter
-
- Tuomi, Tiinamaija (author)
- University of Helsinki,Helsinki University Central Hospital,Institute for Molecular Medicine Finland (FIMM)
-
- Cnop, Miriam (author)
- Université Libre de Bruxelles (ULB)
-
- Weedon, Michael N. (author)
- University of Exeter
-
show less...
-
(creator_code:org_t)
- 2017-10-12
- 2017
- English.
-
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1
- Related links:
-
http://dx.doi.org/10... (free)
-
show more...
-
https://www.nature.c...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
-
Patel, Kashyap A ...
-
Kettunen, Jarno
-
Laakso, Markku
-
Stančáková, Alen ...
-
Laver, Thomas W.
-
Colclough, Kevin
-
show more...
-
Johnson, Matthew ...
-
Abramowicz, Marc
-
Groop, Leif
-
Miettinen, Païvi ...
-
Shepherd, Maggie ...
-
Flanagan, Sarah ...
-
Ellard, Sian
-
Inagaki, Nobuya
-
Hattersley, Andr ...
-
Tuomi, Tiinamaij ...
-
Cnop, Miriam
-
Weedon, Michael ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Endocrinology an ...
- Articles in the publication
-
Nature Communica ...
- By the university
-
Lund University