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Association of CYP2C19*2 c.681G>A (rs4244285) Loss-of-function Allele with Cardiovascular Disease Risk in the Kosovo Population Cover

Association of CYP2C19*2 c.681G>A (rs4244285) Loss-of-function Allele with Cardiovascular Disease Risk in the Kosovo Population

Open Access
|Mar 2025

Figures & Tables

Demographic and Clinical Characteristics of the Study Patient Cohort_

Full cohort N=150Frequency
Demographic parametersn(%)
Age group< 40 years21.3
41-60 years3020.0
> 61 years11878.7
GenderMale9060.0
Female6040.0
Clinical parameters
Indication for clopidogrel therapySTEMI/NSTEMI*6543.3
Other8556.7
Co-morbiditiesOne9764.7
More than one5335.3
Diabetes mellitusWith6543.3
Without8556.7
HypertensionWith10167.3
Without4932.7
DyslipidemiaWith64.0
Without14496.0

Distribution of CYP2C19*2 Allele, Genotype, and Phenotype Frequencies in the Patient Population (N=150), According to Age, Gender, and the Most Common CVD Risk Factors_

CYP2C19*2 polymorphism [rs4244285]Genotype (phenotype)#Allele
*1/*1 n (%)*1/*2 n (%)*2/*2 n (%)*2 n (%)*1 n (%)
Group age< 40 years1 (50)1 (50)0 (0)1 (25)3 (75)
41-60 years18 (60)10 (33.33)2 (6.67)14 (23.33)46 (76.67)
> 61 years80 (67.80)33 (27.96)5 (4.24)43 (18.22)193 (81.78)
GenderMale61 (67.78)25 (27.78)4 (4.44)33 (18.33)147 (81.67)
Female38 (63.33)19 (31.67)3 (5)25 (20.83)95 (79.17)
Diabetes mellitusWith45 (69.23)16 (24.62)4 (6.15)24 (18.46)106 (81.54)
Without54 (63.53)28 (32.94)3 (3.53)34 (20)136 (80)
HypertensionWith67 (66.34)29 (28.71)5 (4.95)39 (19.31)163 (80.69)
Without32 (65.31)15 (30.61)2 (4.08)19 (19.39)79 (80.61)
DyslipidemiaWith4 (66.67)2 (33.33)0 (0)16 (61.54)10 (38.46)
Without95 (65.97)42 (29.16)7 (4.87)42 (15.33)232 (84.67)

Association of CYP2C19*2 polymorphism and risk for CVD in Kosovo population_

Model of Statistical AnalysisPatients (N=150)Healthy population# (N=234)OR95 % CIp-value
nFrequency (%)nFrequency (%)
Co – dominant
*1/*1 (NM)996617876.071.00
*1/*2 (IM)4429.335121.791.2950.991 - 1.6940.067
*2/*2 (PM)74.6752.141.6320.896 - 2.7010.112
Dominant
*1/*1(NM)996617876.071.00
*2/*2+*1/*2 (PM+IM)51345623.931.3341.035 - 1.7190.031
Allelic
*1 allele24280.6740786.971.00
*2 allele5819.336113.031.3071.06 - 1.6120.018

Distribution of the CYP2C19*2 Allele and Genotype/Phenotype Frequencies in the Patient Population_

CYP2C19*2 polymorphism [rs4244285]Patient cohort (N=150)Frequency (%)
nobservedexpected
Genotype (phenotype)#
*1/*1 (NM)9966.065.07
*1/*2 (IM)4429.3331.19
*2/*2 (PM)74.673.74
Allele
*124280.67NA
*25819.33
Language: English
Page range: 77 - 85
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 N Elshani, K Ukella, Stojovska M Staninova, Z Naumovska, M Kurshumliu, D Gorani, Nestorovska A Kapedanovska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.