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Stroke. 1999;30:2180-2182

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(Stroke. 1999;30:2180-2182.)
© 1999 American Heart Association, Inc.


Original Contributions

The A677V Methylenetetrahydrofolate Reductase Gene Polymorphism and Carotid Atherosclerosis

I. Bova, MD, PhD; J. Chapman, MD, PhD; C. Sylantiev, MD; A. D. Korczyn, MD, MSc N. M. Bornstein, MD

From the Stroke Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, and Department of Physiology and Pharmacology (J.C., A.D.K.), Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Correspondence to N.M. Bornstein, MD, Stroke Unit, Tel Aviv Surasky Medical Center, 6 Weizmann St, Tel Aviv 64239, Israel. E-mail strokeun{at}tasmc.health.gov.il

Background and Purpose—The alanine/valine (A/V) polymorphism at codon 677 of the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene correlates with elevated levels of plasma homocysteine and with an increased risk of atherosclerotic cardiovascular disease. Our study was designed to assess the frequency of the A and V alleles in patients with asymptomatic severe carotid artery stenosis (CAS) assessed by extracranial duplex examination in comparison with age- and sex-matched subjects without carotid atherosclerosis.

Methods—Consecutive patients (n=48; 28 men, mean±SD age 67.1±11.4 years) with asymptomatic severe (>75%) CAS were compared with subjects without CAS (n=26; 15 men, aged 61.2±11.5). The MTHFR genotype was analyzed by polymerase chain reaction followed by HinfI digestion. The {chi}2 analysis and t test were used to compare the groups.

Results—The frequency of V alleles was significantly higher in the CAS group (0.47) compared with control subjects (0.27, {chi}2 test; OR 2.4 [95% CI 1.1 to 5.3]; P<0.02).

Conclusions—Our results indicate that the MTHFR A677V allele is significantly associated with severe CAS.


Key Words: amine oxidoreductases • atherosclerosis • carotid stenosis • genetics • ultrasonography, Doppler




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