Polygenic risk score and lipoprotein(a) in relation to low-density lipoprotein cholesterol levels in Czech newborn cohort

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F25%3A00142078" target="_blank" >RIV/00216224:14110/25:00142078 - isvavai.cz</a>

Výsledek na webu

—

DOI - Digital Object Identifier

—

Jazyk výsledku

angličtina

Název v původním jazyce

Polygenic risk score and lipoprotein(a) in relation to low-density lipoprotein cholesterol levels in Czech newborn cohort

Popis výsledku v původním jazyce

Elevated low-density lipoprotein cholesterol (LDL-C) levels in childhood is a major risk factor for premature cardiovascular disease (CVD). While monogenic familial hypercholesterolemia is well recognized, a significant proportion of patients with elevated LDL-C levels have polygenic cause of their condition. Polygenic risk score (PRS) that aggregates the impact of multiple common variants associated with LDL-C levels is commonly used to characterise polygenic hypercholesterolemia. Lipoprotein(a) (Lp(a)), an LDL-like particle containing apolipoprotein(a), represents additional CVD risk. Lp(a) levels are predominantly determined by genetic factors. Elevated Lp(a) can contribute to measured LDL-C and potentially confound its interpretation. In this study, we analysed umbilical cord blood samples from pilot newborn screening project. For nearly 6000 newborns, the LDL-C levels were measured at study enrolment and LDL-C level percentiles were ascertained. For individuals with low (0-15th percentile), medium (40-60th percentile) and high (75-100th percentile) LDL-C levels, we analysed the PRS and Lp(a) values. PRS and Lp(a) were assessed as independent genetic risk factors for elevated LDL-C. Preliminary results show statistically significant differences in PRS and Lp(a) levels between groups with low, medium, and high LDL-C. Results indicate that evaluation of PRS and Lp(a) measurement are important, as both may contribute to explaining elevated LDL-C levels in individuals with hypercholesterolemia.

Název v anglickém jazyce

Polygenic risk score and lipoprotein(a) in relation to low-density lipoprotein cholesterol levels in Czech newborn cohort

Popis výsledku anglicky

Elevated low-density lipoprotein cholesterol (LDL-C) levels in childhood is a major risk factor for premature cardiovascular disease (CVD). While monogenic familial hypercholesterolemia is well recognized, a significant proportion of patients with elevated LDL-C levels have polygenic cause of their condition. Polygenic risk score (PRS) that aggregates the impact of multiple common variants associated with LDL-C levels is commonly used to characterise polygenic hypercholesterolemia. Lipoprotein(a) (Lp(a)), an LDL-like particle containing apolipoprotein(a), represents additional CVD risk. Lp(a) levels are predominantly determined by genetic factors. Elevated Lp(a) can contribute to measured LDL-C and potentially confound its interpretation. In this study, we analysed umbilical cord blood samples from pilot newborn screening project. For nearly 6000 newborns, the LDL-C levels were measured at study enrolment and LDL-C level percentiles were ascertained. For individuals with low (0-15th percentile), medium (40-60th percentile) and high (75-100th percentile) LDL-C levels, we analysed the PRS and Lp(a) values. PRS and Lp(a) were assessed as independent genetic risk factors for elevated LDL-C. Preliminary results show statistically significant differences in PRS and Lp(a) levels between groups with low, medium, and high LDL-C. Results indicate that evaluation of PRS and Lp(a) measurement are important, as both may contribute to explaining elevated LDL-C levels in individuals with hypercholesterolemia.

Druh

O - Ostatní výsledky

CEP obor

—

OECD FORD obor

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

Projekt

<a href="/cs/project/LX22NPO5104" target="_blank" >LX22NPO5104: Národní institut pro výzkum metabolických a kardiovaskulárních onemocnění</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2025

Kód důvěrnosti údajů

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