HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8235" target="_blank" >RIV/00064203:_____/12:8235 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/12:8235

Výsledek na webu

<a href="http://dx.doi.org/10.1111/j.1464-5491.2012.03671.x" target="_blank" >http://dx.doi.org/10.1111/j.1464-5491.2012.03671.x</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)

Popis výsledku v původním jazyce

Aims Genetic variation at the rs560887 locus of the glucose-6-phosphatase, catalytic 2 gene (G6PC2) is known to affect regulation of fasting glycaemia. We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations(GCK-MODY) and correlated the genotypes with HbA1c levels. Methods Patients from families with GCK-MODY were recruited from two large cohorts from Poland (n = 128) and the Czech Republic (n = 154). Genotypes at the rs560887 polymorphic site in G6PC2 were examined using real-time quantitative polymerase chain reaction. The effect of rs560887 genotype on age at diagnosis of GCK-MODY and initial HbA1c levels were evaluated separately within both cohorts. Following that, a meta-analysis of rs560887 genotypeHbA1c associations of both Polish and Czech cohorts was performed to confirm homogeneity of findings and validate cohort-specific results. Results GG homozygosity at rs560887 was associated with marginally elevated HbA1c levels (P = 0.07

Název v anglickém jazyce

HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)

Popis výsledku anglicky

Aims Genetic variation at the rs560887 locus of the glucose-6-phosphatase, catalytic 2 gene (G6PC2) is known to affect regulation of fasting glycaemia. We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations(GCK-MODY) and correlated the genotypes with HbA1c levels. Methods Patients from families with GCK-MODY were recruited from two large cohorts from Poland (n = 128) and the Czech Republic (n = 154). Genotypes at the rs560887 polymorphic site in G6PC2 were examined using real-time quantitative polymerase chain reaction. The effect of rs560887 genotype on age at diagnosis of GCK-MODY and initial HbA1c levels were evaluated separately within both cohorts. Following that, a meta-analysis of rs560887 genotypeHbA1c associations of both Polish and Czech cohorts was performed to confirm homogeneity of findings and validate cohort-specific results. Results GG homozygosity at rs560887 was associated with marginally elevated HbA1c levels (P = 0.07

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

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Projekt

<a href="/cs/project/NT11402" target="_blank" >NT11402: Vyšetřování genů způsobujících monogenní diabetes ve skupině českých pacientů s diabetem a hodnocení vlivu nalezené mutace na klinický stav pacientů, jejich léčbu a kvalitu života</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Diabetic Medicine

ISSN

0742-3071

e-ISSN

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Svazek periodika

29

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

5

Strana od-do

1465-1469

Kód UT WoS článku

000309604600023

EID výsledku v databázi Scopus

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