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.; Lucie DLOUHA; Vera ADAMKOVA; Dana DLOUHA; Lukáš PÁCAL; Kateřina KAŇKOVÁ; David GALUŠKA ; Vera LANSKA; Jiri VELEBA a Terezie PELIKANOVA

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: 2.600

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/23:00130224

Organizační jednotka

Lékařská fakulta

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://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 = {https://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://doi.org/10.1016/j.gene.2022.146921.

Přehled o publikaci