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(Hypertension. 2001;38:444.)
© 2001 American Heart Association, Inc.

Scientific Contributions

Effect of a COL1A1 Sp1 Binding Site Polymorphism on Arterial Pulse Wave Velocity

An Index of Compliance

David J. Brull; Liam J. Murray; Colin A. Boreham; Stuart H. Ralston; Hugh E. Montgomery; Alison M. Gallagher; Fiona E.A. McGuigan; George Davey Smith; Maurice Savage; Steve E. Humphries; Ian S. Young

From the Division of Cardiovascular Genetics, Department of Medicine, Royal Free and UCL Medical School (D.J.B., H.E.M., S.E.H.), London, United Kingdom; Departments of Epidemiology and Public Health (L.J.M.), Child Health (M.S.), and Clinical Chemistry (I.S.Y.), The Queen’s University of Belfast, Belfast, United Kingdom; Department of Sport and Exercise (C.A.B.) and School of Biomedical Sciences (A.M.G.), University of Ulster, Ulster, United Kingdom; Departments of Medicine and Therapeutics, University of Aberdeen Medical School (S.H.R., F.E.A.M.), Aberdeen, United Kingdom; and Department of Social Medicine, University of Bristol (G.D.S.), Bristol, United Kingdom.

Correspondence to Dr David Brull, Division of Cardiovascular Genetics, Department of Medicine, Royal Free and UCL Medical School, The Rayne Institute, London, UK WC1E 6JJ. E-mail D.Brull{at}ucl.ac.uk

Abstract— —Reduced arterial compliance precedes changes in blood pressure, which may be mediated through alterations in vessel wall matrix composition. We investigated the effect of the collagen type I-1 gene (COL1A1) +2046G>T polymorphism on arterial compliance in healthy individuals. We recruited 489 subjects (251 men and 238 women; mean age, 22.6±1.6 years). COL1A1 genotypes were determined using polymerase chain reaction and digestion by restriction enzyme Bal1. Arterial pulse wave velocities were measured in 3 segments, aortoiliac (PWVA), aortoradial (PWVB), and aorto-dorsalis-pedis (PWVF), as an index of compliance using a noninvasive optical method. Data were available for 455 subjects. The sample was in Hardy-Weinberg equilibrium with genotype distributions and allele frequencies that were not significantly different from those reported previously. The T allele frequency was 0.22 (95% confidence interval, 0.19 to 0.24). Two hundred eighty-three (62.2%) subjects were genotype GG, 148 (35.5%) subjects were genotype GT, and 24 (5.3%) subjects were genotype TT. A comparison of GG homozygotes with GT and TT individuals demonstrated a statistically significant association with arterial compliance: PWVF 4.92±0.03 versus 5.06±0.05 m/s (ANOVA, P=0.009), PWVB 4.20±0.03 versus 4.32±0.04 m/s (ANOVA, P=0.036), and PWVA 3.07±0.03 versus 3.15±0.03 m/s (ANOVA, P=0.045). The effects of genotype were independent of age, gender, smoking, mean arterial pressure, body mass index, family history of hypertension, and activity scores. We report an association between the COL1A1 gene polymorphism and arterial compliance. Alterations in arterial collagen type 1A deposition may play a role in the regulation of arterial compliance.

Key Words: compliance • genetics • polymorphism • hypertension

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