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

Description

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.

Steps to reproduce

Steps to Reproduce: 1. Sample Collection: Peripheral venous blood samples (2 mL each) were collected from 200 patients into vacutainer tubes containing K3EDTA as an anticoagulant. 2. DNA Extraction: Genomic DNA was extracted using a commercial isolation kit according to the manufacturer’s instructions. 3. Genotyping (PCR & Sequencing): CYP2D6-specific regions were amplified using the Polymerase Chain Reaction (PCR) technique. Specific primer pairs were utilized for amplification. DNA sequencing analysis was then performed to identify CYP2D6 allelic variants (*2, *3, *4, *5, *6, *7, *10, and *41). 4. Phenotyping: The metabolic phenotype of each patient (Normal, Intermediate, or Poor Metabolizer) was inferred based on the combination of identified genotypes using established CYP2D6 activity scoring systems. 5. Data Processing & Software: Clinical data and genetic data were linked and organized. Statistical analyses and data formatting were performed using the Statistical Package for the Social Sciences (SPSS, version 15.0; IBM Corp., Armonk, NY, USA).

Institutions

• Afyonkarahisar Sağlık Bilimleri Üniversitesi

  Afyonkarahisar Province, Afyonkarahisar
• Pamukkale Üniversitesi Hastaneleri

  Denizli, Denizli

Categories

Funders

• Afyonkarahisar Health Sciences University BAP Committee

  Grant ID: 23.GENEL.026

Licence