E670G PCSK9 polymorphism in HeFH & CAD with diabetes: is the bridge to personalized therapy within reach?

CAD Uzbek population heterozygous familial hypercholesterolemia pcsk9 type 2 diabetes mellitus

Journal

Frontiers in clinical diabetes and healthcare
ISSN: 2673-6616
Titre abrégé: Front Clin Diabetes Healthc
Pays: Switzerland
ID NLM: 9918266295306676

Informations de publication

Date de publication:
2023
Historique:
received: 14 08 2023
accepted: 11 10 2023
medline: 29 11 2023
pubmed: 29 11 2023
entrez: 29 11 2023
Statut: epublish

Résumé

To assess the distribution of PCSK9 E670G genetic polymorphism and PCSK9 levels in patients with Coronary Artery Disease (CAD) and Heterozygous Familial Hypercholesterolemia (HeFH), based on the presence of type 2 Diabetes Mellitus (T2DM). The study included 201 patients with chronic CAD, including those with HeFH (n=57, group I) and without it (n=144, group II). DLCN was used to diagnose HeFH. The PCSK9 E670G (rs505151) polymorphism was genetically typed using the PCR-RFLP procedure. In both the patient and control groups, the genotype frequency matched the Hardy-Weinberg equilibrium distribution (P>0.05). There were twice more G alleles in group I (13, 11.4%) than in group II (17, 6.0%), and thrice more (1, 3.0%) than in the healthy control group; nevertheless, these differences weren't statistically significant. Simultaneously, PCSK9 levels were higher in HeFH patients (P<0.05) compared to non-HeFH patients not taking statins (n=63). T2DM was equally represented in groups I and II (31.6% T2DM in patients with CAD, both with HeFH and non-HeFH, in the Uzbek population was significantly more often associated with the presence of the "gain-of-function" G allele of the PCSK9 E670G genetic polymorphism.

Identifiants

pubmed: 38028979
doi: 10.3389/fcdhc.2023.1277288
pmc: PMC10646404
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1277288

Informations de copyright

Copyright © 2023 Alieva, Shek, Abdullaev, Fozilov, Khoshimov, Abdullaeva, Zakirova, Kurbanova, Kan and Kim.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Rano Alieva (R)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Aleksandr Shek (A)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Alisher Abdullaev (A)

Center for Advanced Technologies, Ministry of Innovative Development of Uzbekistan, Tashkent, Uzbekistan.

Khurshid Fozilov (K)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Shovkat Khoshimov (S)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Guzal Abdullaeva (G)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Dariya Zakirova (D)

Center for Advanced Technologies, Ministry of Innovative Development of Uzbekistan, Tashkent, Uzbekistan.

Rano Kurbanova (R)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Lilia Kan (L)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Andrey Kim (A)

CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, Tashkent, Uzbekistan.

Classifications MeSH