A novel-192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F06%3A00003044" target="_blank" >RIV/00216208:11120/06:00003044 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.2337/db05-1684" target="_blank" >http://dx.doi.org/10.2337/db05-1684</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2337/db05-1684" target="_blank" >10.2337/db05-1684</a>

Result language

angličtina

Original language name

A novel-192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes

Original language description

Recently, it has been shown that mutations in the P2 promoter of the hepatocyte nuclear factor (HNF)-4 alpha gene (HNF4A) cause maturity-onset diabetes of the young (MODY), while single nucleotide polymorphisms in this locus are associated with type 2 diabetes. In this study, we examined 1,189 bp of the P2 promoter and the associated exon 1D of HAIF4A for variations associated with diabetes in 114 patients with type 2 diabetes, 72 MODYX probands, and 85 women with previous gestational diabetes mellitus.A -192c/g mutation was found in five patients. We screened 1,587 diabetic subjects and 4,812 glucose-tolerant subjects for the -192c/g mutation and identified 5 diabetic and I glucose-tolerant mutation carriers (P = 0.004). Examination of the families showed that carriers of the -192c/g mutation had a significantly impaired glucose-stimulated insulin release and lower levels of serum total cholesterol compared with matched control subjects. Furthermore, the mutation disrupted the bindin

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FB - Endocrinology, diabetology, metabolism, nutrition

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2006

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Diabetes

ISSN

0012-1797

e-ISSN

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Volume of the periodical

55

Issue of the periodical within the volume

6

Country of publishing house

US - UNITED STATES

Number of pages

5

Pages from-to

1869-1873

UT code for WoS article

000238053400041

EID of the result in the Scopus database

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