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@article{2249415,
author = {Hubacek, Jaroslav A. and Dlouha, Lucie and Adamkova, Vera and Dlouha, Dana and Pácal, Lukáš and Kaňková, Kateřina and Galuška, David and Lanska, Vera and Veleba, Jiri and Pelikanova, Terezie},
article_location = {Amsterdam},
article_number = {January 2023},
doi = {http://dx.doi.org/10.1016/j.gene.2022.146921},
keywords = {Diabetes; Polymorphism; Complications; Gene score},
language = {eng},
issn = {0378-1119},
journal = {Gene},
title = {Genetic risk score is associated with T2DM and diabetes complications risks},
url = {https://www.sciencedirect.com/science/article/pii/S0378111922007417?via%3Dihub},
volume = {849},
year = {2023}
}
TY - JOUR
ID - 2249415
AU - Hubacek, Jaroslav A. - Dlouha, Lucie - Adamkova, Vera - Dlouha, Dana - Pácal, Lukáš - Kaňková, Kateřina - Galuška, David - Lanska, Vera - Veleba, Jiri - Pelikanova, Terezie
PY - 2023
TI - Genetic risk score is associated with T2DM and diabetes complications risks
JF - Gene
VL - 849
IS - January 2023
SP - 1-8
EP - 1-8
PB - Elsevier Science
SN - 03781119
KW - Diabetes
KW - Polymorphism
KW - Complications
KW - Gene score
UR - https://www.sciencedirect.com/science/article/pii/S0378111922007417?via%3Dihub
N2 - Background: Type 2 diabetes mellitus (T2DM) is a prototypical complex disease with polygenic architecture playing an important role in determining susceptibility to develop the disease (and its complications) in subjects exposed to modifiable lifestyle factors. A current challenge is to quantify the degree of the individual's genetic risk using genetic risk scores (GRS) capturing the results of genome-wide association studies while incorporating possible ethnicity- or population-specific differences. Methods: This study included three groups of T2DM (T2DM-I, N = 1,032; T2DM-II, N = 353; and T2DM-III, N = 399) patients and 2,481 diabetes-free subjects. The status of the microvascular and macrovascular diabetes complications were known for the T2DM-I patients. Overall, 21 single nucleotide polymorphisms (SNPs) were analyzed, and selected subsets were used to determine the GRS (both weighted - wGRS and unweighted - uGRS) for T2DM risk predictions (6 SNPs) and for predicting the risks of complications (7 SNPs). Results: The strongest T2DM markers (P < 0.0001) were within the genes for TCF7L2 (transcription factor 7-like 2), FTO (fat mass and obesity associated protein) and ARAP1 (ankyrin repeat and PH domain 1). The T2DM-I subjects with uGRS values greater (Odds Ratio, 95 % Confidence Interval) than six had at least twice (2.00, 1.72-2.32) the risk of T2DM development (P < 0.0001), and these results were confirmed in the independent groups (T2DM-II 1.82, 1.45-2.27; T2DM-III 2.63, 2.11-3.27). The wGRS (>0.6) further improved (P < 0.000001) the risk estimations for all three T2DM groups. The uGRS was also a significant predictor of neuropathy (P < 0.0001), nephropathy (P < 0.005) and leg ischemia (P < 0.0005). Conclusions: If carefully selected and specified, GRS, both weighted and unweighted, could be significant predictors of T2DM development, as well as the diabetes complications development.
ER -
HUBACEK, Jaroslav A., Lucie DLOUHA, Vera ADAMKOVA, Dana DLOUHA, Lukáš PÁCAL, Kateřina KAŇKOVÁ, David GALUŠKA, Vera LANSKA, Jiri VELEBA and Terezie PELIKANOVA. Genetic risk score is associated with T2DM and diabetes complications risks. \textit{Gene}. Amsterdam: Elsevier Science, 2023, vol.~849, January 2023, p.~1-8. ISSN~0378-1119. Available from: https://dx.doi.org/10.1016/j.gene.2022.146921.
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