ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 701

Vascular Differences Associated to Genetic Polymorphisms of Endothelial Nitric Oxide Synthase in Mexican Patients with Systemic Sclerosis. A Preliminary Report

Maria Pilar Cruz-Dominguez1, Maria Angeles Martinez-Godinez2, Angel Miliar-Garcia2, Daniel Hector Montes-Cortes3, Olga Vera-Lastra4, Luis J. Jara-Quezada5 and Anabel Reyes-Salazar6, 1Division of Research, Hospital de Especialidades Centro Medico Nacional La Raza., Mexico, DF, Mexico, 2Postgraduate Studies and Research Section, Escuela Superior de Medicina. IPN,, Mexico, D.F., Mexico, 3Investigación, Hospital General CMN La Raza, IMSS, Mexico DF, Mexico, 4Internal Medicine, MD, Mexico City, Mexico, 5Direction of Education and Research, Hospital de Especialidades Centro Médico La Raza, IMSS, Mexico City, Mexico, 6Angiology, Hospital de especialidades Centro Medico National “La Raza”, IMSS, Mexico, D.F., Mexico

Meeting: 2012 ACR/ARHP Annual Meeting

Keywords: , ,

Session Information

Title: Systemic Sclerosis, Fibrosing Syndromes, and Raynaud’s – Clinical Aspects and Therapeutics

Session Type: Abstract Submissions (ACR)

Background/Purpose: Vascular dysfunction usually is observed before clinically detectable fibrosis of systemic sclerosis (SSc). The eNOS catalyses the synthesis of nitric oxide (NO), which maintains basal vascular tone and endothelial function. Abnormal production of e-NOS and/or iNOS impairs NO availability causing vascular disease. Genetic polymorphism may participate in these alterations.   

Objective: To investigate vascular differences associated to polymorphisms T-786C and G894T of the eNOS gene on differential expression of eNOS/iNOS in the skin and vascular Duplex Sonography parameters of SSc patients.

Methods: We included 139 consecutive SSc patients. The genotyping of T-786C and G894T polymorphisms of eNOS gene was performed by Polymerase Chain Reaction Real-Time Assay. The control group included 180 age-matched healthy volunteers. For the eNOS/iNOS skin expression we included 31 patients (14 lcSSc and 17 dcSSc).

Results: In lcSSc: T-786C prevalence was TT65.5%, TC30.2% and CC4.3% (OR 1.8, IC 0.4-7.9 associated to SSc); and the G894T prevalence was GT74.3%, GT20.3% and TT5.4% (OR 1.94, IC 0.54-7.04 associated to SSc). In dcSSc: the T-786C prevalence was TT76.6%, TC20%, and CC3.3%, and G894T polymorphism was GT 82%, GT 18% and TT 0% without association with SSc. In control group: the prevalence of T-786C polymorphism was TT68.45%, TC29.4%, and CC2.22%; for G894T polymorphism was GG74.1%, GT23.02%, TT2.87%. The mean relative expression of eNOS was 10.17+/-15.5  and  iNOS of 7.6+/-13.05 in lcSSc. For dcSSc  the mean relative expression of eNOS  was 1.74+/-1.16  and iNOS of 2.1+/-2.5.  1.08+/-0.3 and 1.36+/-0.7 in skin of volunteers of control group. Left brachial intima-media thickness was statistically significantly greater in allelic variants of eNOS in SSc (p=0.025).

Conclusion: In the skin of both subtypes of systemic sclerosis, the relative expression of eNOS and iNOS is increased. Genetic polymorphisms of eNOS is associated with anormal  intima-media thicknes in SSc patients.

Disclosure:

M. P. Cruz-Dominguez,
None;

M. A. Martinez-Godinez,
None;

A. Miliar-Garcia,
None;

D. H. Montes-Cortes,
None;

O. Vera-Lastra,
None;

L. J. Jara-Quezada,
None;

A. Reyes-Salazar,
None.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/vascular-differences-associated-to-genetic-polymorphisms-of-endothelial-nitric-oxide-synthase-in-mexican-patients-with-systemic-sclerosis-a-preliminary-report/