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

N Elshani,

K Ukella,

Stojovska M Staninova

et al.

Balkan Journal of Medical Genetics, Journal Year: 2024, Volume and Issue: 27(2), P. 77 - 85

Published: Dec. 1, 2024

The CYP2C19*2 c.681G>A (rs4244285) loss-of-function (LOF) allele has been associated with reduced clopidogrel efficacy and increased risk of major adverse cardiovascular events (MACE). PGx-guided treatment, despite the recommendations, is not fully implemented in routine clinical practice. primary aim this hybrid retrospective-prospective study was to determine whether identifying CYP2C19 LOF patients may benefit antiplatelet drug prescribing decisions made Kosovo. cohort consisted treated presenting at University Clinical Center period from December 2023 May 2024. To evaluate correlation between treatment outcome a follow-up 2 years, we first assessed genotype using Taq Man Real Time PCR method. Among 150 patients, 58 (19.33%) were identified as carriers allele. observed distribution significantly different when compared one reported for healthy Kosovar population (13.03%). exhibited 1.6-fold higher probability developing disease non-carriers, based on allelic codominant model statistical analysis (OR=1.60; 95% CI=1.08-2.37; p=0.018 OR=1.64; CI=1.04-2.57; p=0.031, respectively). median observation time follow up reached until conducted. Our data supports potential association an CVD add evidence advising careful consideration genetic diversity recommending therapy, particularly populations, such Kosovar, where determinants are yet elucidated.

Language: Английский

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

N Elshani,

K Ukella,

Stojovska M Staninova

et al.

Balkan Journal of Medical Genetics, Journal Year: 2024, Volume and Issue: 27(2), P. 77 - 85

Published: Dec. 1, 2024

The CYP2C19*2 c.681G>A (rs4244285) loss-of-function (LOF) allele has been associated with reduced clopidogrel efficacy and increased risk of major adverse cardiovascular events (MACE). PGx-guided treatment, despite the recommendations, is not fully implemented in routine clinical practice. primary aim this hybrid retrospective-prospective study was to determine whether identifying CYP2C19 LOF patients may benefit antiplatelet drug prescribing decisions made Kosovo. cohort consisted treated presenting at University Clinical Center period from December 2023 May 2024. To evaluate correlation between treatment outcome a follow-up 2 years, we first assessed genotype using Taq Man Real Time PCR method. Among 150 patients, 58 (19.33%) were identified as carriers allele. observed distribution significantly different when compared one reported for healthy Kosovar population (13.03%). exhibited 1.6-fold higher probability developing disease non-carriers, based on allelic codominant model statistical analysis (OR=1.60; 95% CI=1.08-2.37; p=0.018 OR=1.64; CI=1.04-2.57; p=0.031, respectively). median observation time follow up reached until conducted. Our data supports potential association an CVD add evidence advising careful consideration genetic diversity recommending therapy, particularly populations, such Kosovar, where determinants are yet elucidated.

Language: Английский

Citations

0