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Genetics of T2DM and Its Chronic Complications: Are We Any Closer to the Individual Prediction of Genetic Risk?

Publikace na Přírodovědecká fakulta, 1. lékařská fakulta |
2022

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

Type 2 diabetes mellitus (T2DM) is a com-plex disease that has risen in global prevalence over recent decades, resulting in concomitant and enor-mous socio-economic impacts. In addition to the well-documented risk factors of obesity, poor dietary habits and sedentary lifestyles, genetic background plays a key role in the aetiopathogenesis of diabetes and the development of associated micro-and macro -vascular complications.

Recent advances in genomic research, notably next-generation sequencing and ge-nome-wide association studies, have greatly improved the efficiency with which genetic backgrounds to com-plex diseases are analysed. To date, several hundred single-nucleotide polymorphisms have been associ-ated with T2DM or its complications.

Given the poly -genic background to T2DM (and numerous other complex diseases), the degree of genetic predisposi-tion can be treated as a "continuous trait" quantified by a genetic risk score. Focusing mainly on the Central European population, this review summa-rizes recent state-of-the-art methods that have en-abled us to better determine the genetic architecture of T2DM and the utility of genetic risk scores in dis-ease prediction.