MODY ģenētisko riska faktoru analīze Latvijas populācijā

6533b82cfe1ef96bd12903df

RESEARCH PRODUCT

MODY ģenētisko riska faktoru analīze Latvijas populācijā

Līga Birzniece

subject

kandidātgēnu analīze uz mikrorindām balstīta genotipēšana NGS MODY Bioloģija

description

MODY sastāda 1-5 % no visiem cukura diabēta gadījumiem, taču diagnoze nereti tiek uzstādīta kļūdaini. Izmantojot uz NGS balstītu MODY gēnu sekvencēšanu, patogēnus alēliskos variantus identificēja 21 no 78 testētajiem, MODY fenotipam atbilstošiem pacientiem. Identificētie varianti atbilst MODY2/GCK (n=15), MODY3/HNF1α (n=5) un MODY8/CEL (n=1) tipiem, turklāt patogēno variantu pārmantošana tika apstiprināta septiņās ģimenēs. MODY kandidātgēnu lokusu analīze atklāja 22 biežo variantu asociāciju ar 2. tipa cukura diabēta attīstību, 201 varianta saistību ar 2. tipa cukura diabēta saslimšanas vecumu, 17 variantu saistību ar 1. tipa cukura diabēta saslimšanas vecumu un 41 varianta saistību ar 1. tipa cukura diabēta pacientu glomerulu filtrācijas ātrumu (p<0,05), taču novērotās asociācijas zaudēja statistisko ticamību pēc multiplās testēšanas.

year	journal	country	edition	language
2019-01-01

https://dspace.lu.lv/dspace/handle/7/48260

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