Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance

DJ Brull, LJ Murray, CA Boreham, SH Ralston, HE Montgomery, Alison Gallagher, FEA McGuigan, GD Smith, M Savage, SE Humphries, IS Young

Research output: Contribution to journalArticle

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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 colla gen type I-alpha1 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 Ball. 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.
LanguageEnglish
Pages444-448
JournalHypertension
Volume38
Issue number3
Publication statusPublished - Sep 2001

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Pulse Wave Analysis
Compliance
Binding Sites
Genotype
Analysis of Variance
Gene Frequency
Homozygote
Genes
Digestion
Arterial Pressure
Body Mass Index
Collagen
Smoking
Confidence Intervals
Blood Pressure
Hypertension
Polymerase Chain Reaction
Enzymes

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Brull, DJ., Murray, LJ., Boreham, CA., Ralston, SH., Montgomery, HE., Gallagher, A., ... Young, IS. (2001). Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance. Hypertension, 38(3), 444-448.
Brull, DJ ; Murray, LJ ; Boreham, CA ; Ralston, SH ; Montgomery, HE ; Gallagher, Alison ; McGuigan, FEA ; Smith, GD ; Savage, M ; Humphries, SE ; Young, IS. / Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance. In: Hypertension. 2001 ; Vol. 38, No. 3. pp. 444-448.
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Brull, DJ, Murray, LJ, Boreham, CA, Ralston, SH, Montgomery, HE, Gallagher, A, McGuigan, FEA, Smith, GD, Savage, M, Humphries, SE & Young, IS 2001, 'Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance', Hypertension, vol. 38, no. 3, pp. 444-448.

Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance. / Brull, DJ; Murray, LJ; Boreham, CA; Ralston, SH; Montgomery, HE; Gallagher, Alison; McGuigan, FEA; Smith, GD; Savage, M; Humphries, SE; Young, IS.

In: Hypertension, Vol. 38, No. 3, 09.2001, p. 444-448.

Research output: Contribution to journalArticle

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T1 - Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance

AU - Brull, DJ

AU - Murray, LJ

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AU - Ralston, SH

AU - Montgomery, HE

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AU - Savage, M

AU - Humphries, SE

AU - Young, IS

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N2 - 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 colla gen type I-alpha1 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 Ball. 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.

AB - 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 colla gen type I-alpha1 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 Ball. 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.

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Brull DJ, Murray LJ, Boreham CA, Ralston SH, Montgomery HE, Gallagher A et al. Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity - An index of compliance. Hypertension. 2001 Sep;38(3):444-448.