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Mutations in HNF1A ...
Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile
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Thanabalasingham, Gaya (author)
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Huffman, Jennifer E. (author)
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Kattla, Jayesh J. (author)
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Novokmet, Mislav (author)
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Rudan, Igor (author)
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Gloyn, Anna L. (author)
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Hayward, Caroline (author)
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Adamczyk, Barbara (author)
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Reynolds, Rebecca M. (author)
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Muzinic, Ana (author)
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Hassanali, Neelam (author)
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Pucic, Maja (author)
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Bennett, Amanda J. (author)
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Essafi, Abdelkader (author)
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Polasek, Ozren (author)
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Mughal, Saima A. (author)
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Redzic, Irma (author)
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Primorac, Dragan (author)
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Zgaga, Lina (author)
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Kokic, Ivana (author)
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Hansen, Torben (author)
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Gasperikova, Daniela (author)
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Tjora, Erling (author)
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Strachan, Mark W. J. (author)
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Nielsen, Trine (author)
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Stanik, Juraj (author)
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Klimes, Iwar (author)
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Pedersen, Oluf B. (author)
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Njolstad, Pal R. (author)
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Wild, Sarah H. (author)
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- Gyllensten, Ulf (author)
- Uppsala universitet,Genomik
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Gornik, Olga (author)
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Wilson, James F. (author)
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Hastie, Nicholas D. (author)
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Campbell, Harry (author)
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McCarthy, Mark I. (author)
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Rudd, Pauline M. (author)
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Owen, Katharine R. (author)
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Lauc, Gordan (author)
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Wright, Alan F. (author)
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(creator_code:org_t)
- 2013-03-14
- 2013
- English.
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In: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 62:4, s. 1329-1337
- Related links:
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https://diabetes.dia...
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https://urn.kb.se/re...
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https://doi.org/10.2...
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Abstract
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- A recent genome-wide association study identified hepatocyte nuclear factor 1-alpha (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MOD?) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A-MODY. In a pilot comparison of 33 subjects with HNF1A-MODY and 41 subjects with type 2 diabetes, 15 of 29 glycan measurements differed between the two groups. The DG9-glycan index, which is the ratio of fucosylated to nonfucosylated triantennary glycans, provided optimum discrimination in the pilot study and was examined further among additional subjects with HNF1A-MODY (n = 188), glucokinase (GCE)-MODY (n = 118), hepatocyte nuclear factor 4-alpha (HNF4A)-MODY (n = 40), type 1 diabetes (n = 98), type 2 diabetes (n = 167), and nondiabetic controls (n = 98). The DG9-glycan index was markedly lower in HNF1A-MODY than in controls or other diabetes subtypes, offered good discrimination between HNF1A-MODY and both type 1 and type 2 diabetes (C statistic >= 0.90), and enabled us to detect three previously undetected HNF1A mutations in patients with diabetes. In conclusion, glycan profiles are altered substantially in HNF1A-MODY, and the DG9-glycan index has potential clinical value as a diagnostic biomarker of HNF1A dysfunction.
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Diabetes
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Thanabalasingham ...
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Huffman, Jennife ...
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Kattla, Jayesh J ...
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Novokmet, Mislav
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Rudan, Igor
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Gloyn, Anna L.
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show more...
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Hayward, Carolin ...
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Adamczyk, Barbar ...
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Reynolds, Rebecc ...
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Muzinic, Ana
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Hassanali, Neela ...
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Pucic, Maja
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Bennett, Amanda ...
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Essafi, Abdelkad ...
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Polasek, Ozren
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Mughal, Saima A.
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Redzic, Irma
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Primorac, Dragan
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Zgaga, Lina
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Kokic, Ivana
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Hansen, Torben
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Gasperikova, Dan ...
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Tjora, Erling
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Strachan, Mark W ...
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Nielsen, Trine
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Stanik, Juraj
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Klimes, Iwar
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Pedersen, Oluf B ...
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Njolstad, Pal R.
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Wild, Sarah H.
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Gyllensten, Ulf
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Gornik, Olga
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Wilson, James F.
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Hastie, Nicholas ...
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Campbell, Harry
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McCarthy, Mark I ...
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Rudd, Pauline M.
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Owen, Katharine ...
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Lauc, Gordan
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Wright, Alan F.
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show less...
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Diabetes
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Uppsala University