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

Result code in 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>

Alternative codes found

RIV/00216208:11130/16:10329592

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

—

Type

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

CEP classification

FG - Paediatrics

OECD FORD branch

—

Project

<a href="/en/project/NT11402" target="_blank" >NT11402: Genetic investigation of monogenic diabetes in the Czech Republic: Evaluation of clinical symptoms, treatment and quality of life</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

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

Name of the periodical

Diabetic Medicine

ISSN

0742-3071

e-ISSN

—

Volume of the periodical

33

Issue of the periodical within the volume

12

Country of publishing house

GB - UNITED KINGDOM

Number of pages

5

Pages from-to

1712-1716

UT code for WoS article

000387871300019

EID of the result in the Scopus database

2-s2.0-84955091229