Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype

Лимонова, А. С.; Ершова, А. И.; Мешков, А. Н.; Киселева, А. В.; Divashuk, Mikhail G.; Куценко, В. А.; Драпкина, О. М.

doi:10.3389/fcvm.2020.585779

Cited by 5 publications

(5 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…2,5 ApoE gene polymorphisms affect lipoprotein clearing and lipid profile, and also the development of CAD. 6,7 Lipid metabolism is influenced by ApoE genotypes. A previous study found that ε4 carriers can increase CAD risk by approximately 42%.…”

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E Gene Polymorphism and Coronary Artery Disease Risk Among Patients in Northwest China

Ma¹,

Ren²,

Zhang³

et al. 2021

PGPM

View full text Add to dashboard Cite

Purpose The association between apolipoprotein E (ApoE) gene polymorphisms and the risk of coronary artery disease (CAD) among different populations has been assessed in numerous previous studies, but the results remain inconclusive. The present study aimed to determine the role of ApoE genotypes in CAD risk and the interrelationships between lipid profiles and ApoE alleles and genotypes among the population of northwest China. Patients and Methods This study was performed on 308 patients with CAD and 308 control participants. ApoE gene polymorphism was analysed using the polymerase chain reaction and hybridization. Results The findings indicated that the frequencies of ε3/ε4 genotype and ε4 allele frequency were significantly higher in patients with CAD than in the control participants. ε2 carriers had significantly lower total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglycerides (TG) levels than did ε3 or ε4 carriers among the control participants. However, our study found no significant differences in plasma lipoprotein levels between ɛ2, ɛ3 and ɛ4 carriers in patients with CAD. Moreover, ε4 carriers had significantly higher ApoB, ApoB/ApoA-I levels and significantly lower ApoE levels in both patients with CAD and control participants. ε4 allele presence was associated with a nearly two-fold higher CAD risk. After adjusting for other established risk factors, ε4 allele was an independent risk factor for CAD. After stratified by age (≤ 60 years and >60 years), ε4 allele was indicated to increase the CAD risk 3.3-fold in elderly patients with CAD, but not in young patients with CAD. After stratified by sex, ε4 allele was not a risk factor in females and males patients with CAD. Conclusion This study provides evidence that the ε4 allele, drinking, smoking, hypertension, and TG and ApoE levels are independent risk factor for CAD among patients in northwest China.

show abstract

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E Gene Polymorphism and Coronary Artery Disease Risk Among Patients in Northwest China

Ma¹,

Ren²,

Zhang³

et al. 2021

PGPM

View full text Add to dashboard Cite

show abstract

“…Studies have also suggested that genetic variations in APOE may contribute to the development of RA [61]. • MMP-3: Matrix metalloproteinase-3 (MMP-3) is an enzyme in tissue remodeling and repair [62].…”

Section: Shared Genes For Rheumatoid Arthritis and Atherosclerosismentioning

confidence: 99%

“…However, the link between RA and atherosclerosis in genomics pathways involves shared genetic factors in inflammation, lipid metabolism, and endothelial function [69]. Epigenetic modifications may also contribute to the shared genetic basis of these diseases [61]. A better understanding of these genetic and epigenetic mechanisms could lead to new therapies for both RA and atherosclerosis.…”

Section: Shared Genes For Rheumatoid Arthritis and Atherosclerosismentioning

confidence: 99%

Artificial intelligence-based preventive, personalized and precision medicine for cardiovascular disease/stroke risk assessment in rheumatoid arthritis patients: a narrative review

Al-Maini,

Maindarkar,

Kitas

et al. 2023

Rheumatol Int

View full text Add to dashboard Cite

The challenges associated with diagnosing and treating cardiovascular disease (CVD)/Stroke in Rheumatoid arthritis (RA) arise from the delayed onset of symptoms. Existing clinical risk scores are inadequate in predicting cardiac events, and conventional risk factors alone do not accurately classify many individuals at risk. Several CVD biomarkers consider the multiple pathways involved in the development of atherosclerosis, which is the primary cause of CVD/Stroke in RA. To enhance the accuracy of CVD/Stroke risk assessment in the RA framework, a proposed approach involves combining genomic-based biomarkers (GBBM) derived from plasma and/or serum samples with innovative non-invasive radiomicbased biomarkers (RBBM), such as measurements of synovial fluid, plaque area, and plaque burden. This review presents two hypotheses: (i) RBBM and GBBM biomarkers exhibit a significant correlation and can precisely detect the severity of CVD/Stroke in RA patients. (ii) Artificial Intelligence (AI)-based preventive, precision, and personalized (aiP 3 ) CVD/ Stroke risk AtheroEdge™ model (AtheroPoint™, CA, USA) that utilizes deep learning (DL) to accurately classify the risk of CVD/stroke in RA framework. The authors conducted a comprehensive search using the PRISMA technique, identifying 153 studies that assessed the features/biomarkers of RBBM and GBBM for CVD/Stroke. The study demonstrates how DL models can be integrated into the AtheroEdge™-aiP 3 framework to determine the risk of CVD/Stroke in RA patients. The findings of this review suggest that the combination of RBBM with GBBM introduces a new dimension to the assessment of CVD/Stroke risk in the RA framework. Synovial fluid levels that are higher than normal lead to an increase in the plaque burden. Additionally, the review provides recommendations for novel, unbiased, and pruned DL algorithms that can predict CVD/Stroke risk within a RA framework that is preventive, precise, and personalized.

show abstract

“…Limonova AS, et al (2021) представили клинический случай пациента с выраженной гипертриглицеридемией и ранним атеросклерозом. У пациента помимо rs7412 в гомозиготном состоянии верифицирован редкий патогенный ВНП rs267606664 (p.Gly145Asp) в гетерозиготном состоянии [11].…”

Section: патофизиология и генетическое разнообразие сдлпunclassified

“…Помимо этого, в случае выявления у пробанда аутосомно-доминантной формы заболевания возможен каскадный скрининг родственников и, в случае выявления у родственников патогенного ВНП, наиболее раннее начало профилактических мероприятий. Таким образом, ранее выявление генотипов, ответственных за развитие СДЛП, путем проведения генетического скрининга с актуализацией первичной профилактики, способно предотвратить развитие фенотипа СДЛП и, тем самым, снизить риск развития ССЗ и инвалидизацию у данной категории больных, что может быть экономически эффективной стратегией [11].…”

Section: профилактикаunclassified

Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Блохина¹,

Ершова²,

Мешков³

et al. 2021

Cardiovasc Ther Prev

View full text Add to dashboard Cite

Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In actual clinical practice, physicians do not have clear understanding of clinical course and genetic basis of FD. The aim was to present the most complete, but at the same time a critical review with a modern view on FD. We analyzed Russian and foreign publications from following electronic databases: PubMed, eLIBRARY, Google Scholar. As a result, the phenotypic features and genetic variability of the disease were considered and the main issues of diagnosis and treatment of patients with FD were discussed. The data presented will help the clinician to timely suspect the FD, conduct a full range of investigations and prescribe evidence-based lipid-lowering therapy.

show abstract

Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype

Cited by 5 publications

References 33 publications

Apolipoprotein E Gene Polymorphism and Coronary Artery Disease Risk Among Patients in Northwest China

Apolipoprotein E Gene Polymorphism and Coronary Artery Disease Risk Among Patients in Northwest China

Artificial intelligence-based preventive, personalized and precision medicine for cardiovascular disease/stroke risk assessment in rheumatoid arthritis patients: a narrative review

Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Contact Info

Product

Resources

About