Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F16%3A10329592" target="_blank" >RIV/00064203:_____/16:10329592 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/16:10329592

Výsledek na webu

<a href="http://dx.doi.org/10.1111/dme.13043" target="_blank" >http://dx.doi.org/10.1111/dme.13043</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/dme.13043" target="_blank" >10.1111/dme.13043</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Popis výsledku v původním jazyce

AimsPatients with maturity-onset diabetes of the young (MODY) might be over-represented in families with histories of Type 1 diabetes. Our aim was to re-evaluate families participating in the Czech T1D Prediction Programme (PREDIA.CZ) with at least two members affected with diabetes to assess the proportion of MODY among these families and determine its most significant clinical predictors. MethodsOf the 557 families followed up by the PREDIA.CZ, 53 (9.5%) had two or more family members with diabetes. One proband with diabetes from these families was chosen for direct sequencing of the GCK, HNF1A, HNF4A and INS genes. Non-parametric tests and a linear logistic regression model were used to evaluate differences between MODY and non-MODY families. ResultsMODY was genetically diagnosed in 24 of the 53 families with multiple occurrences of diabetes (45%). Mutations were detected most frequently in GCK (58%), followed by HNF1A (38%) and INS (4%). MODY families were more likely to have a parent with diabetes and had a higher proportion of females with diabetes than non-MODY families. Higher age (P < 0.001), a lower level of HbA(1c) (P < 0.001) at clinical onset and at least two generations affected by diabetes were the variables most predictive for probands of MODY families already presenting with diabetes. ConclusionsA prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis.

Název v anglickém jazyce

Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Popis výsledku anglicky

AimsPatients with maturity-onset diabetes of the young (MODY) might be over-represented in families with histories of Type 1 diabetes. Our aim was to re-evaluate families participating in the Czech T1D Prediction Programme (PREDIA.CZ) with at least two members affected with diabetes to assess the proportion of MODY among these families and determine its most significant clinical predictors. MethodsOf the 557 families followed up by the PREDIA.CZ, 53 (9.5%) had two or more family members with diabetes. One proband with diabetes from these families was chosen for direct sequencing of the GCK, HNF1A, HNF4A and INS genes. Non-parametric tests and a linear logistic regression model were used to evaluate differences between MODY and non-MODY families. ResultsMODY was genetically diagnosed in 24 of the 53 families with multiple occurrences of diabetes (45%). Mutations were detected most frequently in GCK (58%), followed by HNF1A (38%) and INS (4%). MODY families were more likely to have a parent with diabetes and had a higher proportion of females with diabetes than non-MODY families. Higher age (P < 0.001), a lower level of HbA(1c) (P < 0.001) at clinical onset and at least two generations affected by diabetes were the variables most predictive for probands of MODY families already presenting with diabetes. ConclusionsA prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis.

Druh

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

CEP obor

FG - Pediatrie

OECD FORD obor

—

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)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

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

—

Svazek periodika

33

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

5

Strana od-do

1712-1716

Kód UT WoS článku

000387871300019

EID výsledku v databázi Scopus

2-s2.0-84955091229