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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

<a href="/cs/project/NV15-28876A" target="_blank" >NV15-28876A: Využití genového HTG skóre v diagnostice primárních hypertriglyceridemií a odhadu rizika gastrointestinálních a kardiovaskulárních komplikací</a><br>

Návaznosti

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

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

Molecular diagnosis and therapy

ISSN

1177-1062

e-ISSN

—

Svazek periodika

23

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

NZ - Nový Zéland

Počet stran výsledku

8

Strana od-do

555-562

Kód UT WoS článku

000478685800010

EID výsledku v databázi Scopus

2-s2.0-85068133441