Angiotensin-converting enzyme I/D polymorphism and macrovascular disease in systemic sclerosis

Rheumatology (Oxford). 2007 May;46(5):772-5. doi: 10.1093/rheumatology/kel433. Epub 2007 Jan 30.

Abstract

Objective: Systemic sclerosis (SSc) is characterized by microvascular and macrovascular alterations. The D allele of the ACE I/D polymorphism is known to be associated with an increased incidence of atherosclerosis and has been recently proposed as associated with increased risk of SSc. This study evaluates the relationship between intima-media thickness (IMT), ankle-brachial pressure measurements (ABPI) and ACE I/D polymorphism in SSc patients.

Methods: According to the presence of ACE D allele (analysed by PCR), 53 SSc patients (47 females and 6 males; median age was 60.4 +/- 10.68 yrs; range 40-75 yrs) were divided in carriers of the D allele (DD + ID) (n = 46) and carriers of the I allele (II) (n = 7). In these patients, IMT and ABPI [calculated as the posterior tibial artery pressure (mmHg) divided by the brachial pressure] were obtained. Forty-three healthy controls (40 women and 13 men; median age 56.3 +/- 10.23; range 40-70 yrs) of the same ethnicity were recruited.

Results: SSc patients had IMT significantly higher than controls (0.85 +/- 0.03 vs 0. 68 +/- 0.01; P < 0.03). No significant differences (P > 0.3) in ABPI values between patients (1.018 +/- 0.10) and controls (1.091 +/- 0.11) were found. SSc patients with ACE DD and ID genotype showed an IMT significantly greater (0.89 +/- 0.03) than those carrying the II genotype (0.61 +/- 0.01) (P < 0.04). ABPI was not different among ACE gene genotypes.

Conclusion: Our findings confirm an increased prevalence of macrovascular disease in SSc patients and show that IMT is greater in patients carrying the ACE DD and ID genotype in comparison with II homozygotes. This suggests that, in SSc, the presence of ACE D allele may predispose to an involvement of the macrovascular system.

MeSH terms

  • Adult
  • Aged
  • Arteriosclerosis / etiology
  • Arteriosclerosis / genetics*
  • Arteriosclerosis / pathology
  • Blood Pressure
  • Brachial Artery / physiopathology
  • Carotid Artery, Common / diagnostic imaging
  • Carotid Artery, Common / pathology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic*
  • Scleroderma, Systemic / complications
  • Scleroderma, Systemic / genetics*
  • Scleroderma, Systemic / pathology
  • Tunica Intima / diagnostic imaging
  • Tunica Intima / pathology
  • Tunica Media / diagnostic imaging
  • Tunica Media / pathology
  • Ultrasonography

Substances

  • ACE protein, human
  • Peptidyl-Dipeptidase A