PMID- 38028979
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231201
IS  - 2673-6616 (Electronic)
IS  - 2673-6616 (Linking)
VI  - 4
DP  - 2023
TI  - E670G PCSK9 polymorphism in HeFH & CAD with diabetes: is the bridge to 
      personalized therapy within reach?
PG  - 1277288
LID - 10.3389/fcdhc.2023.1277288 [doi]
LID - 1277288
AB  - OBJECTIVE: 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). METHODS: 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). RESULTS: 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% vs. 33.3%). But carriers of AG+GG genotypes in group I had 
      a higher chance of having a history of T2DM (RR 4.18; 95%CI 2.19-8.0; P<0.001), 
      myocardial infarction (RR 1.79; 95%CI 1.18-2.73; P<0.05), and revascularization 
      (RR 12.6; 95%CI 4.06-38.8; P<0.01), than AA carriers. T2DM was also more common 
      among G allele carriers (RR 1.85; 95% CI 1.11-3.06; P<0.05) in patients with 
      non-HeFH. CONCLUSION: 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.
CI  - Copyright (c) 2023 Alieva, Shek, Abdullaev, Fozilov, Khoshimov, Abdullaeva, 
      Zakirova, Kurbanova, Kan and Kim.
FAU - Alieva, Rano
AU  - Alieva R
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Shek, Aleksandr
AU  - Shek A
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Abdullaev, Alisher
AU  - Abdullaev A
AD  - Center for Advanced Technologies, Ministry of Innovative Development of 
      Uzbekistan, Tashkent, Uzbekistan.
FAU - Fozilov, Khurshid
AU  - Fozilov K
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Khoshimov, Shovkat
AU  - Khoshimov S
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Abdullaeva, Guzal
AU  - Abdullaeva G
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Zakirova, Dariya
AU  - Zakirova D
AD  - Center for Advanced Technologies, Ministry of Innovative Development of 
      Uzbekistan, Tashkent, Uzbekistan.
FAU - Kurbanova, Rano
AU  - Kurbanova R
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Kan, Lilia
AU  - Kan L
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
FAU - Kim, Andrey
AU  - Kim A
AD  - CAD & Atherosclerosis Department, Republican Specialized Center of Cardiology, 
      Tashkent, Uzbekistan.
LA  - eng
PT  - Journal Article
DEP - 20231101
PL  - Switzerland
TA  - Front Clin Diabetes Healthc
JT  - Frontiers in clinical diabetes and healthcare
JID - 9918266295306676
PMC - PMC10646404
OTO - NOTNLM
OT  - CAD
OT  - Uzbek population
OT  - heterozygous familial hypercholesterolemia
OT  - pcsk9
OT  - type 2 diabetes mellitus
COIS- 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.
EDAT- 2023/11/29 18:42
MHDA- 2023/11/29 18:43
PMCR- 2023/11/01
CRDT- 2023/11/29 17:20
PHST- 2023/08/14 00:00 [received]
PHST- 2023/10/11 00:00 [accepted]
PHST- 2023/11/29 18:43 [medline]
PHST- 2023/11/29 18:42 [pubmed]
PHST- 2023/11/29 17:20 [entrez]
PHST- 2023/11/01 00:00 [pmc-release]
AID - 10.3389/fcdhc.2023.1277288 [doi]
PST - epublish
SO  - Front Clin Diabetes Healthc. 2023 Nov 1;4:1277288. doi: 
      10.3389/fcdhc.2023.1277288. eCollection 2023.