Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F24%3A00084790" target="_blank" >RIV/00023001:_____/24:00084790 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/24:00135522 RIV/00216208:11110/24:10473360 RIV/00216208:11310/24:10473360 RIV/00159816:_____/24:00079479 RIV/00064165:_____/24:10473360

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S1933287423003422?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1933287423003422?via%3Dihub</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jacl.2023.11.010" target="_blank" >10.1016/j.jacl.2023.11.010</a>

Result language

angličtina

Original language name

Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia

Original language description

Background: Familial dysbetalipoproteinemia (FD) is an autosomal recessive (rarely dominant) inherited disorder that is almost exclusively associated with the apolipoprotein E gene (APOE) variability. Nonetheless, only a small proportion of APOE2/E2 subjects develop the phenotype for mixed dyslipidemia; the context of other trigger metabolic or genetic factors remains unknown. Methods: One hundred and one patients with FD and eighty controls (all APOE2/E2 homozygotes; rs429358) were screened for 18 single-nucleotide polymorphisms (SNPs) within the genes involved in triglyceride metabolism. Results: Two SNPs were significantly associated with the FD phenotype (rs439401 within APOE; P &lt; 0.0005 and rs964184 within ZPR1/APOA5/A4/C3/A1 gene cluster; P &lt; 0.0001). Unweighted genetic risk scores - from these two SNPs (GRS2), and, also, additional 13 SNPs with P-value below 0.9 (GRS15) - were created as an additional tool to improve the risk estimation of FD development in subjects with the APOE2/E2 genotype. Both GRS2 and GRS15 were significantly (P &lt; 0.0001) increased in patients and both GRSs discriminated almost identically between the groups (P = 0.86). Subjects with an unweighted GRS2 of three or more had an almost four-fold higher risk of FD development than other individuals (OR 3.58, CI: 1.78–7.18, P &lt; 0.0005). Conclusions: We identified several SNPs that are individual additive factors influencing FD development. The use of unweighted GRS2 is a simple and clinically relevant tool that further improves the prediction of FD in APOE2/E2 homozygotes with corresponding biochemical characteristics. © 2023

Czech name

—

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

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>

Continuities

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

Journal of clinical lipidology

ISSN

1933-2874

e-ISSN

—

Volume of the periodical

18

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

"e230"-"e237"

UT code for WoS article

001239945500003

EID of the result in the Scopus database

2-s2.0-85178638779