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

		Full cohort N=150	Frequency
Demographic parameters		n	(%)
Age group	< 40 years	2	1.3
	41-60 years	30	20.0
	> 61 years	118	78.7
Gender	Male	90	60.0
Gender	Female	60	40.0
Clinical parameters
Indication for clopidogrel therapy	STEMI/NSTEMI*	65	43.3
Indication for clopidogrel therapy	Other	85	56.7
Co-morbidities	One	97	64.7
Co-morbidities	More than one	53	35.3
Diabetes mellitus	With	65	43.3
Diabetes mellitus	Without	85	56.7
Hypertension	With	101	67.3
Hypertension	Without	49	32.7
Dyslipidemia	With	6	4.0
Dyslipidemia	Without	144	96.0

1 * STEMI/NSTEMI - ST segment elevated myocardial infarction / NonST segment elevated myocardial infarction

Table 2.

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

CYP2C19*2 polymorphism [rs4244285]	Patient cohort (N=150)	Frequency (%)
CYP2C19*2 polymorphism [rs4244285]	n	observed	expected
Genotype (phenotype)^#
1/1 (NM)	99	66.0	65.07
1/2 (IM)	44	29.33	31.19
2/2 (PM)	7	4.67	3.74
Allele
*1	242	80.67	NA
*2	58	19.33	NA

1 * 1/*1(NM) – Normal Metabolizer; *1/*2 (IM) – Intermediate Metabolizer; *2/*2 (PM) – Poor Metabolizer; NA-non applicable

Table 3.

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

Model of Statistical Analysis	Patients (N=150)		Healthy population^# (N=234)		OR	95 % CI	p-value
Model of Statistical Analysis	n	Frequency (%)	n	Frequency (%)	OR	95 % CI	p-value
*Co – dominant*
1/1 (NM)	99	66	178	76.07	1.00
1/2 (IM)	44	29.33	51	21.79	1.295	0.991 - 1.694	0.067
2/2 (PM)	7	4.67	5	2.14	1.632	0.896 - 2.701	0.112
*Dominant*
1/1(NM)	99	66	178	76.07	1.00
2/2+1/2 (PM+IM)	51	34	56	23.93	1.334	1.035 - 1.719	0.031
*Allelic*
*1 allele	242	80.67	407	86.97	1.00
*2 allele	58	19.33	61	13.03	1.307	1.06 - 1.612	0.018

1 # Historical genotype control group according to Krasniqi et al., 2017 [27]

Table 4.

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
CYP2C19*2 polymorphism [rs4244285]		1/1 n (%)	1/2 n (%)	2/2 n (%)	*2 n (%)	*1 n (%)
Group age	< 40 years	1 (50)	1 (50)	0 (0)	1 (25)	3 (75)
	41-60 years	18 (60)	10 (33.33)	2 (6.67)	14 (23.33)	46 (76.67)
	> 61 years	80 (67.80)	33 (27.96)	5 (4.24)	43 (18.22)	193 (81.78)
Gender	Male	61 (67.78)	25 (27.78)	4 (4.44)	33 (18.33)	147 (81.67)
Gender	Female	38 (63.33)	19 (31.67)	3 (5)	25 (20.83)	95 (79.17)
Diabetes mellitus	With	45 (69.23)	16 (24.62)	4 (6.15)	24 (18.46)	106 (81.54)
Diabetes mellitus	Without	54 (63.53)	28 (32.94)	3 (3.53)	34 (20)	136 (80)
Hypertension	With	67 (66.34)	29 (28.71)	5 (4.95)	39 (19.31)	163 (80.69)
Hypertension	Without	32 (65.31)	15 (30.61)	2 (4.08)	19 (19.39)	79 (80.61)
Dyslipidemia	With	4 (66.67)	2 (33.33)	0 (0)	16 (61.54)	10 (38.46)
Dyslipidemia	Without	95 (65.97)	42 (29.16)	7 (4.87)	42 (15.33)	232 (84.67)

1 * 1/*1 (NM) – Normal Metabolizer; *1/*2 (IM) – Intermediate Metabolizer; *2/*2 (PM) – Poor Metabolizer. All p-values were greater than 0.05, indicating no statistically significant differences.

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DOI: https://doi.org/10.2478/bjmg-2024-0015 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160

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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

Keywords:

risk for cardiovascular disease

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 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.

Volume 27 (2024): Issue 2 (December 2024)