Dataset for: Investigation of CYP2D6 Gene Polymorphisms in Cardiology Patients and Determination of their Effect on Metoprolol Efficacy

Research Hypothesis:
The research hypothesizes that Cytochrome P450 2D6 (CYP2D6) genetic polymorphisms may influence susceptibility to cardiovascular diseases and affect the interindividual clinical efficacy of metoprolol therapy. Because metoprolol is primarily cleared by the CYP2D6 enzyme, patients with impaired enzyme function (poor metabolizers) may experience elevated plasma concentrations, potentially predisposing them to adverse events such as excessive bradycardia.
Methodology and Data Gathering:
The data was collected from a cohort of 200 cardiology patients receiving metoprolol treatment at Afyonkarahisar Health Sciences University. Following ethical approval and written informed consent, peripheral venous blood samples were obtained from all participants. Genomic DNA was extracted, and CYP2D6 genotyping for common functional and non-functional variants (*2, *3, *4, *5, *6, *7, *10, and *41) was performed using polymerase chain reaction (PCR) and DNA sequence analysis.
Data Description and Interpretation:
The uploaded dataset (.csv / .xlsx) provides anonymized, patient-level data. Each row represents a single patient and includes their calculated age, specific cardiovascular diagnosis (e.g., Hypertension, Ischaemic Heart Disease, Atrial Fibrillation), individual CYP2D6 allele status, combined genotype, and their predicted metabolic phenotype (Normal Metabolizer - NM, Intermediate Metabolizer - IM, or Poor Metabolizer - PM). Researchers can use this dataset to interpret the allele and phenotype frequencies within the Turkish population and explore the relationships between specific genotypes and cardiovascular disease subgroups.Notable Findings:
Analysis of the data reveals that 83.5% of the participants were normal metabolizers, 13.5% were intermediate metabolizers, and 3% were poor metabolizers carrying the CYP2D6*7/7 genotype. A significant finding within the dataset is that the CYP2D61/2 and CYP2D61/*6 genotypes were markedly more frequent in the ischemic heart disease subgroup compared to other cardiovascular diagnoses. Additionally, the data indicates that under routine clinical dosing conditions, the heart rate reduction (bradycardic response) to metoprolol did not differ significantly among the different metabolizer phenotypes.