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Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients

Tatiana S Rodríguez-Reyna¹, Carlos Núñez-Alvarez², Alfredo Cruz-Lagunas³

¹Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, Mexico sofarodriguez@yahoo.com.mx.

Journal of the Renin-Angiotensin-Aldosterone System : JRAAS

|August 5, 2016

Abstract

Introduction:

Systemic sclerosis (SSc) shows variable clinical expression in different ethnic groups; vascular abnormalities are a prominent feature of this disease and its clinical expression may be influenced by genetic factors.

Patients And Methods:

Herein, we describe 15 polymorphisms of the renin-angiotensin-aldosterone pathway in 170 Mexican admixed SSc patients (defined as patients with Mexican ancestry for at least 3 generations) and 199 healthy controls. We determined the presence of angiotensin II Type 1 receptor (AGTR1), angiotensin converting enzyme (ACE) and Endothelin 1 single nucleotide polymorphisms (SNPs) using 5' exonuclease TaqMan genotyping assays on a 7900HT real-time fast polymerase chain reaction (PCR) system.

Results:

These polymorphisms had a similar distribution between SSc patients and controls, but we found that the AGTR1 G-680T (rs275652) (p = 0.02; OR 3.5; 95%CI 1.2-10.4) and AGTR1 A-119G (rs275653) (p = 0.008; OR 4.2; 95% CI 1.5-12.1) polymorphisms were associated with severe vascular involvement in our SSc patients.

Conclusions:

This is the first report of the association of these polymorphisms with vasculopathy in Mexican admixed SSc patients. Our findings suggested that the angiotensin II Type 1 receptor genotype may influence the clinical expression of vasculopathy in these patients. Functional analyses should follow.

Keywords:

Angiotensin Hispanic patients angiotensin II Type 1 receptor finger ulcers fingertip ulcers polymorphisms renin-angiotensin-aldosterone system scleroderma vasculopathy

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