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Vascular injury in systemic sclerosis: Angiotensin-converting enzyme insertion/deletion polymorphism

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Abstract

The microvascular involvement in systemic sclerosis (SSc) is characterized by endothelial damage and smooth muscle cell migration in the intima. The vascular pathologic modifications in SSc are strikingly similar to those of atherosclerosis. SSc also is characterized by an accelerated macrovascular disease. The gene encoding for angiotensinconverting enzyme (ACE) is a 21-kb, 26-exon gene, localized on chromosome 17 (17q23). Polymorphic sites are an insertion/deletion (I/D) that consists of three genotypes: DD and II homozygotes, and ID heterozygote. ACE gene polymorphisms have been linked to vascular disorders (coronary artery disease, hypertension, cerebrovascular disease, hypertrophic cardiomyopathy, and diabetic or nondiabetic nephropathy). In particular, the possession of ACE D allele was associated with an increased risk of developing malignant vascular injury. ACE D allele frequency of the I/D polymorphism was associated with an increased risk of SSc, suggesting a genetic contribution to the disease. The discrepancy between the high prevalence of D allele and reduced ACE plasma levels in SSc demonstrate the lack of knowledge on the regulation and function of renin-angiotensin system in SSc.

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Authors and Affiliations

  1. Department of Medical and Surgical Critical Care, Section of Clinical Medicine and Cardiology, University of Florence, Villa Monna Tessa, Viale Pieraccini 18, 50122, Firenze, Italy

    Cinzia Fatini MD & Rosanna Abbate MD

  2. Department of Medicine, Section of Rheumatology, University of Florence, Villa Monna Tessa, Viale Pieraccini 18, 50122, Firenze, Italy

    Serena Guiducci MD & Marco Matucci-Cerinic MD, PhD

Authors
  1. Cinzia Fatini MD
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  2. Serena Guiducci MD
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  4. Marco Matucci-Cerinic MD, PhD
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Fatini, C., Guiducci, S., Abbate, R. et al. Vascular injury in systemic sclerosis: Angiotensin-converting enzyme insertion/deletion polymorphism. Curr Rheumatol Rep 6, 149–155 (2004). https://doi.org/10.1007/s11926-004-0060-x

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