An angiotensin-converting enzyme gene polymorphism suggests a genetic distinction between ischaemic stroke and carotid stenosis

• Published in: European journal of clinical investigation Vol. 29; no. 6; pp. 478 - 483
• Main Authors: Kostulas, K., Huang, W.-X., Crisby, M., Jin, Y.-P., He, B., Lannfelt, L., Eggertsen, G., Kostulas, V., Hillert, J.
• Format: Journal Article
• Language: English
• Published: Oxford BSL Blackwell Science Ltd 01-06-1999; Blackwell; Blackwell Publishing Ltd
• Subjects: Aged; Aged, 80 and over; Angiotensin-converting enzyme; Biological and medical sciences; Brain Ischemia - enzymology; Brain Ischemia - genetics; Cardiovascular system; carotid artery stenosis; Carotid Stenosis - enzymology; Carotid Stenosis - genetics; Cerebral Infarction - enzymology; Cerebral Infarction - genetics; cerebrovascular disease; Female; Gene Frequency; Genetic Predisposition to Disease; genetic susceptibility; Genotype; Homozygote; Humans; Investigative techniques, diagnostic techniques (general aspects); ischaemic stroke; Male; Medical sciences; Medicin och hälsovetenskap; Middle Aged; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Peptidyl-Dipeptidase A - genetics; Polymorphism, Genetic; Reference Values; Human; Immunopathology; Nervous system diseases; Genetic variability; Enzyme; Stenosis; Cardiovascular disease; Genetic determinism; Cerebral disorder; Arterial disease; Vascular disease; Peptidases; Ischemia; Coding; Peptidyl-dipeptidase A; Carotid; Central nervous system disease; Distribution; Risk factor; Hydrolases; Peptidyl-dipeptidases; Cerebrovascular disease; Comparative study; Polymorphism
• ISSN: 0014-2972; 1365-2362
• DOI: 10.1046/j.1365-2362.1999.00476.x

Background
Ischaemic cerebrovascular disease (ICVD) is a heterogeneous syndrome to which different genetic factors may contribute. We have investigated the distribution of alleles of the angiotensin‐converting enzyme (ACE) gene, which has been suggested to be of possible importance in ischaemic stroke or cardiovascular disease, in groups of patients with ischaemic stroke and carotid artery stenosis (CS).
Materials and methods
One hundred and thirty patients with ischaemic stroke and 68 patients with more than 50% stenosis of the internal carotid artery were investigated and compared with age‐ and sex‐matched healthy control subjects. Alleles of an insertion/deletion polymorphism of the ACE gene were determined by one‐stage polymerase chain reaction and visualized on agarose gels.
Results
There was a significant difference (P < 0.05) in the distribution of ACE alleles, homozygosity for the presumed susceptibility deletion allele being more common in patients with CS than in healthy control subjects. There was also a significant difference (P < 0.05) in patients with CS in comparison with matched ICVD patients without CS, both in allelic frequencies and in homozygosity for the deletion allele.
Conclusions
Our results indicate that the ACE gene polymorphism may be a risk factor for the development of CS. The observed difference in ACE allele distribution may be seen as evidence for a genetic distinction between ICVD and CS, two clinically related conditions, which further supports the hypothesis that genetic factors are of importance for this group of diseases.