Related Experiment Video
Updated: Aug 2, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Cytochrome P450 1A1 (CYP1A1) T6325C polymorphism might modulate essential hypertension-associated stroke risk
V Lança1, P Alcântara, J Braz-Nogueira
1Laboratório de Genética, Centro de Metabolismo e Endocrinologia, Faculdade de Medicina de Lisboa, Lisboa, Portugal.
Insights
The cytochrome P450 1A1 (CYP1A1) gene
Area of Science:
- Genetics
- Cardiovascular Disease
- Pharmacogenomics
Background:
- Hypertension is a significant risk factor for stroke.
- Cytochrome P450 1A1 (CYP1A1) influences vasoactive substance production.
- CYP1A1 functional polymorphisms may link to hypertension-related pathologies.
Purpose of the Study:
- Investigate the association between CYP1A1 polymorphisms and stroke in hypertensive patients.
- Determine if CYP1A1 genotype influences essential hypertension risk.
Main Methods:
- Genotyping of 32 hypertension patients for three CYP1A1 polymorphisms.
- Comparison of genotype distributions between hypertensive patients with and without stroke history.
- Analysis of results against a control population (n=152).
Main Results:
- The CYP1A1 T6235C (m1) polymorphism's C allele showed a significant association with stroke (OR = 5.94).
- No association was found between the studied CYP1A1 polymorphism and essential hypertension.
- The C allele was more prevalent in hypertensive patients with a history of stroke.
Conclusions:
- CYP1A1 activity may be related to stroke incidence in essential hypertension patients.
- The studied CYP1A1 polymorphism is linked to stroke, not essential hypertension itself.
- Further research is needed to confirm the role of CYP1A1 in stroke pathogenesis.
Abstract:
Stroke is a serious complication associated with hypertension. Because cytochrome P450 1A1 (CYP1A1) is involved in the production of arachidonic acid-derived vasoactive substances, we hypothesized that CYP1A1 functional polymorphisms (linked to changes in enzyme activity) might be related to pathological conditions associated with essential hypertension. We genotyped 32 patients with hypertension for three CYP1A1 polymorphisms, and individuals with or without history of previous stroke were compared. These results were also compared with a control population sample of 152. The distributions of T6235C (m1) CYP1A1 genotypes in patients with (TT: 44.4%;
Tc/Cc:
55.6%; n = 9) and without stroke (TT: 82.6%;
Tc/Cc:
17.4%; n = 23) indicate that the C allele is associated with stroke (OR = 5.94; 95% C = 1.46 - 24.23). No association was found between the polymorphism studied and essential hypertension. Our results suggest a relationship between CYP1A1 activity and incidence of stroke in patients with essential hypertension, but no conclusion can be drawn regarding an association with essential hypertension.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Drug toxicity: Idiosyncratic Reactions

