Genetic risk score is associated with T2DM and diabetes
complications risks

J 2023

Genetic risk score is associated with T2DM and diabetes complications risks

HUBACEK, Jaroslav A., Lucie DLOUHA, Vera ADAMKOVA, Dana DLOUHA, Lukáš PÁCAL et. al.

Základní údaje

Originální název

Genetic risk score is associated with T2DM and diabetes complications risks

Autoři

HUBACEK, Jaroslav A. (203 Česká republika, garant), Lucie DLOUHA (203 Česká republika), Vera ADAMKOVA (203 Česká republika), Dana DLOUHA (203 Česká republika), Lukáš PÁCAL (203 Česká republika, domácí), Kateřina KAŇKOVÁ (203 Česká republika, domácí), David GALUŠKA (203 Česká republika, domácí), Vera LANSKA (203 Česká republika), Jiri VELEBA (203 Česká republika) a Terezie PELIKANOVA (203 Česká republika)

Vydání

Gene, Amsterdam, Elsevier Science, 2023, 0378-1119

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.500 v roce 2022

Kód RIV

RIV/00216224:14110/23:00130224

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.gene.2022.146921

UT WoS

000870486700009

Klíčová slova anglicky

Diabetes; Polymorphism; Complications; Gene score

Štítky

14110518, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 14. 2. 2024 13:07, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

MUNI/A/1370/2022, interní kód MU

Název: Patofyziologie vybraných komplexních nemocí od molekulární do systémovou úroveň

Investor: Masarykova univerzita, Patofyziologie vybraných komplexních nemocí od molekulární do systémovou úroveň

MUNI/A/1391/2021, interní kód MU

Název: Molekulární, buněčná, tkáňová a systémová patofyziologie vybraných komplexních nemocí (Akronym: KOMPLEX_PF)

Investor: Masarykova univerzita, Molekulární, buněčná, tkáňová a systémová patofyziologie vybraných komplexních nemocí

NV18-01-00046, projekt VaV

Název: Genetické skóre v predikci rizika diabetu a jeho komplikací

Investor: Ministerstvo zdravotnictví ČR, Genetické skóre v predikci rizika diabetu a jeho komplikací

Citovat

HUBACEK, Jaroslav A., Lucie DLOUHA, Vera ADAMKOVA, Dana DLOUHA, Lukáš PÁCAL, Kateřina KAŇKOVÁ, David GALUŠKA, Vera LANSKA, Jiri VELEBA a Terezie PELIKANOVA. Genetic risk score is associated with T2DM and diabetes complications risks. Gene. Amsterdam: Elsevier Science, 2023, roč. 849, January 2023, s. 1-8. ISSN 0378-1119. Dostupné z: https://dx.doi.org/10.1016/j.gene.2022.146921.

@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 a Terezie PELIKANOVA. Genetic risk score is associated with T2DM and diabetes complications risks. \textit{Gene}. Amsterdam: Elsevier Science, 2023, roč.~849, January 2023, s.~1-8. ISSN~0378-1119. Dostupné z: https://dx.doi.org/10.1016/j.gene.2022.146921.

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