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Functional investig...
Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population
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- Najmi, Laeya Abdoli (författare)
- University of Bergen,Haukeland University Hospital
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- Aukrust, Ingvild (författare)
- Haukeland University Hospital,University of Bergen
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- Flannick, Jason (författare)
- Broad Institute
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- Molnes, Janne (författare)
- University of Bergen,Haukeland University Hospital
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- Burtt, Noel (författare)
- Broad Institute
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- Molven, Anders (författare)
- University of Bergen,Haukeland University Hospital
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- Groop, Leif (författare)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups
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- Altshuler, David (författare)
- Harvard University,Broad Institute,Massachusetts General Hospital
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- Johansson, Stefan (författare)
- University of Bergen,Haukeland University Hospital
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- Bjørkhaug, Lise (författare)
- University of Bergen,Bergen University College
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- Njølstad, Pål Rasmus (författare)
- Haukeland University Hospital,University of Bergen
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(creator_code:org_t)
- 2016-11-29
- 2017
- Engelska 12 s.
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Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 66:2, s. 335-346
- Relaterad länk:
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http://dx.doi.org/10...
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https://diabetes.dia...
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https://lup.lub.lu.s...
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https://doi.org/10.2...
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Abstract
Ämnesord
Stäng
- Variants in HNF1A encoding hepatocyte nuclear factor 1a (HNF-1A) are associated with maturity-onset diabetes of the young form 3 (MODY 3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified in well-phenotyped populations (n = 4,115). Bioinformatics tools classified 11 variants as likely pathogenic and showed no association with diabetes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95% CI 0.73-5.60; P = 0.18). However, a different set of 11 variants that reduced HNF-1A transcriptional activity to <60% of normal (wild-type) activity was strongly associated with diabetes in the general population (combined MAF 0.22%; OR 5.04; 95% CI 1.99-12.80; P = 0.0007). Our functional investigations indicate that 0.44% of the population carry HNF1A variants that result in a substantially increased risk for developing diabetes. These results suggest that functional characterization of variants within MODY genes may overcome the limitations of bioinformatics tools for the purposes of presymptomatic diabetes risk prediction in the general population.
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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- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
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Diabetes
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- Av författaren/redakt...
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Najmi, Laeya Abd ...
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Aukrust, Ingvild
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Flannick, Jason
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Molnes, Janne
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Burtt, Noel
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Molven, Anders
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visa fler...
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Groop, Leif
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Altshuler, David
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Johansson, Stefa ...
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Bjørkhaug, Lise
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Njølstad, Pål Ra ...
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visa färre...
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och Klinisk medicin
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Diabetes
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Lunds universitet