Fol. Biol. 2022, 68, 159-179

https://doi.org/10.14712/fb2022068050159

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

D. Galuška1, Lucie Dlouhá2, J. A. Hubáček3,4, K. Kaňková1

1Department of Pathophysiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic
2Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague, Czech Republic
33rd Department of Medicine – Department of Endocrinology and Metabolism, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic
4Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, Prague, Czech Republic

Received November 2022
Accepted February 2023

Type 2 diabetes mellitus (T2DM) is a complex disease that has risen in global prevalence over recent decades, resulting in concomitant and enormous 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 genome-wide association studies, have greatly improved the efficiency with which genetic backgrounds to complex diseases are analysed. To date, several hundred single-nucleotide polymorphisms have been associated with T2DM or its complications. Given the polygenic background to T2DM (and numerous other complex diseases), the degree of genetic predisposition can be treated as a “continuous trait” quantified by a genetic risk score. Focusing mainly on the Central European population, this review summarizes recent state-of-the-art methods that have enabled us to better determine the genetic architecture of T2DM and the utility of genetic risk scores in disease prediction.

Funding

This study was supported by the Ministry of Health of the Czech Republic (grant No. NV18-01-00046).

References

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