The Gene Score for Predicting Hypertriglyceridemia: New Insights from a Czech Case-Control Study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00078265" target="_blank" >RIV/00023001:_____/19:00078265 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/19:10400293 RIV/00064165:_____/19:10400293

Result on the web

<a href="https://link.springer.com/article/10.1007/s40291-019-00412-2" target="_blank" >https://link.springer.com/article/10.1007/s40291-019-00412-2</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s40291-019-00412-2" target="_blank" >10.1007/s40291-019-00412-2</a>

Result language

angličtina

Original language name

The Gene Score for Predicting Hypertriglyceridemia: New Insights from a Czech Case-Control Study

Original language description

BackgroundPlasma triglyceride (TG) values are significant predictors of cardiovascular and total mortality. The plasma levels of TGs have an important genetic background. We analyzed whether 32 single nucleotide polymorphisms (SNPs) identified in genome-wide association studies are discriminators of hypertriglyceridemia (HTG) in the Czech population.ObjectivesThe objective of this study was to replicate and test the original findings in an independent study and to re-analyze the gene score leading to HTG.MethodsIn total, we analyzed 32 SNPs in 209 patients with plasma TG levels over 10mmol/L (HTG group) and compared them in a case-control design with 524 treatment-naive controls (normotriglyceridemic [NTG] group) with plasma TG values below 1.8mmol/L.ResultsSixteen SNPs were significantly associated with an increased risk of HTG development, with odds ratios (ORs) (95% confidence interval [CI]) varying from 1.40 (1.01-1.95) to 4.69 (3.29-6.68) (rs964184 within the APOA5 gene). Both unweighted (sum of the risk alleles) and weighted gene scores (WGS) (log of the achieved ORs per individual genotype) were calculated, and both gene scores were significantly different between groups. The mean score of the risk alleles was significantly increased in the HTG group compared to the NTG group (18.52.5 vs. 15.7 +/- 2.3, respectively; P&lt;0.00001). Subjects with a WGS over 9 were significantly more common in the HTG group (44.5%) than in the NTG group, in which such a high score was observed in only 4.7% of subjects (OR 16.3, 95% CI 10.0-36.7; P&lt;0.0000001).Conclusions An increased number of risk genetic variants, calculated both in a weighted or unweighted manner, significantly discriminates between the subjects with HTG and controls. Population-specific sets of SNPs included into the gene score seem to yield better discrimination power.

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

30101 - Human genetics

Project

<a href="/en/project/NV15-28876A" target="_blank" >NV15-28876A: Use of HTG gene score in diagnosis of primary hypertriglyceridemias and assessment of the risk of gastrointestinal and cardiovascular complications</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

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

Name of the periodical

Molecular diagnosis and therapy

ISSN

1177-1062

e-ISSN

—

Volume of the periodical

23

Issue of the periodical within the volume

4

Country of publishing house

NZ - NEW ZEALAND

Number of pages

8

Pages from-to

555-562

UT code for WoS article

000478685800010

EID of the result in the Scopus database

2-s2.0-85068133441