T2DM/CKD genetic risk scores and the progression of diabetic kidney disease in T2DM subjects

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F24%3A00084960" target="_blank" >RIV/00023001:_____/24:00084960 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/24:00136589 RIV/00216208:11110/24:10483210 RIV/65269705:_____/24:00080247 RIV/00159816:_____/24:00080247

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S037811192400605X?via%3Dihub#ak005" target="_blank" >https://www.sciencedirect.com/science/article/pii/S037811192400605X?via%3Dihub#ak005</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.gene.2024.148724" target="_blank" >10.1016/j.gene.2024.148724</a>

Result language

angličtina

Original language name

T2DM/CKD genetic risk scores and the progression of diabetic kidney disease in T2DM subjects

Original language description

This study aimed at understanding the predictive potential of genetic risk scores (GRS) for diabetic kidney disease (DKD) progression in patients with type 2 diabetes mellitus (T2DM) and Major Cardiovascular Events (MCVE) and All-Cause Mortality (ACM) as secondary outcomes. We evaluated 30 T2DM and CKD GWAS-derived single nucleotide polymorphisms (SNPs) and their association with clinical outcomes in a central European cohort (n = 400 patients). Our univariate Cox analysis revealed significant associations of age, duration of diabetes, diastolic blood pressure, total cholesterol and eGFR with progression of DKD (all P &lt; 0.05). However, no single SNP was conclusively associated with progression to DKD, with only CERS2 and SHROOM3 approaching statistical significance. While a single SNP was associated with MCVE - WSF1 (P = 0.029), several variants were associated with ACM - specifically CANCAS1, CERS2 and C9 (all P &lt; 0.02). Our GRS did not outperform classical clinical factors in predicting progression to DKD, MCVE or ACM. More precisely, we observed an increase only in the area under the curve (AUC) in the model combining genetic and clinical factors compared to the clinical model alone, with values of 0.582 (95 % CI 0.487-0.676) and 0.645 (95 % CI 0.556-0.735), respectively. However, this difference did not reach statistical significance (P = 0.06). This study highlights the complexity of genetic predictors and their interplay with clinical factors in DKD progression. Despite the promise of personalised medicine through genetic markers, our findings suggest that current clinical factors remain paramount in the prediction of DKD. In conclusion, our results indicate that GWAS-derived GRSs for T2DM and CKD do not offer improved predictive ability over traditional clinical factors in the studied Czech T2DM population.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Gene

ISSN

0378-1119

e-ISSN

1879-0038

Volume of the periodical

927

Issue of the periodical within the volume

November 15

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

8

Pages from-to

"art. no. 148724"

UT code for WoS article

001262948200001

EID of the result in the Scopus database

2-s2.0-85196798829