Genetic risk score in patients with 1 the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F24%3AN0000024" target="_blank" >RIV/00209775:_____/24:N0000024 - isvavai.cz</a>
Result on the web
<a href="https://www.lipidjournal.com/article/S1933-2874(23)00342-2/fulltext" target="_blank" >https://www.lipidjournal.com/article/S1933-2874(23)00342-2/fulltext</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>
Alternative languages
Result language
angličtina
Original language name
Genetic risk score in patients with 1 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 < 0.0005 and rs964184 within ZPR1/APOA5/A4/C3/A1 gene cluster; P < 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 < 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 (odds ratio (OR) 3.58, 95% confidence interva (CI): 1.78–7.18, P < 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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30230 - Other clinical medicine subjects
Result continuities
Project
<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Clinical Lipidology
ISSN
1933-2874
e-ISSN
1876-4789
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