Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc)
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 ren...
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Format: | Article |
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SAGE Publications
2016-07-01
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Series: | Journal of the Renin-Angiotensin-Aldosterone System |
Online Access: | https://doi.org/10.1177/1470320316659954 |
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author | Tatiana S Rodríguez-Reyna Carlos Núñez-Alvarez Alfredo Cruz-Lagunas Rosalinda Posadas-Sánchez Nonanzit Pérez-Hernández Luis Jiménez-Alvarez Gustavo Ramírez-Martínez Julio Granados Gilberto Vargas-Alarcón Joaquín Zúñiga |
author_facet | Tatiana S Rodríguez-Reyna Carlos Núñez-Alvarez Alfredo Cruz-Lagunas Rosalinda Posadas-Sánchez Nonanzit Pérez-Hernández Luis Jiménez-Alvarez Gustavo Ramírez-Martínez Julio Granados Gilberto Vargas-Alarcón Joaquín Zúñiga |
author_sort | Tatiana S Rodríguez-Reyna |
collection | DOAJ |
description | 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. |
first_indexed | 2024-03-07T17:33:48Z |
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id | doaj.art-2313c91a50b94baea467c2de7b57ee7f |
institution | Directory Open Access Journal |
issn | 1752-8976 |
language | English |
last_indexed | 2024-03-07T17:33:48Z |
publishDate | 2016-07-01 |
publisher | SAGE Publications |
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series | Journal of the Renin-Angiotensin-Aldosterone System |
spelling | doaj.art-2313c91a50b94baea467c2de7b57ee7f2024-03-02T17:15:59ZengSAGE PublicationsJournal of the Renin-Angiotensin-Aldosterone System1752-89762016-07-011710.1177/1470320316659954Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc)Tatiana S Rodríguez-Reyna0Carlos Núñez-Alvarez1Alfredo Cruz-Lagunas2Rosalinda Posadas-Sánchez3Nonanzit Pérez-Hernández4Luis Jiménez-Alvarez5Gustavo Ramírez-Martínez6Julio Granados7Gilberto Vargas-Alarcón8Joaquín Zúñiga9Department of Immunology and Rheumatology, [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, MexicoDepartment of Immunology and Rheumatology, [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, MexicoDepartment of Immunology, [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, MexicoDepartment of Endocrinology, [Ignacio Chávez National Institute of Cardiology], Mexico City, MexicoDepartment of Molecular Biology, [Ignacio Chávez National Institute of Cardiology], Mexico City, MexicoDepartment of Immunology, [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, MexicoDepartment of Immunology, [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, MexicoDepartment of Transplantation, [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, MexicoDepartment of Molecular Biology, [Ignacio Chávez National Institute of Cardiology], Mexico City, MexicoDepartment of Immunology, [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, MexicoIntroduction: 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.https://doi.org/10.1177/1470320316659954 |
spellingShingle | Tatiana S Rodríguez-Reyna Carlos Núñez-Alvarez Alfredo Cruz-Lagunas Rosalinda Posadas-Sánchez Nonanzit Pérez-Hernández Luis Jiménez-Alvarez Gustavo Ramírez-Martínez Julio Granados Gilberto Vargas-Alarcón Joaquín Zúñiga Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) Journal of the Renin-Angiotensin-Aldosterone System |
title | Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) |
title_full | Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) |
title_fullStr | Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) |
title_full_unstemmed | Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) |
title_short | Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc) |
title_sort | angiotensin ii type 1 receptor agtr1 gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis ssc |
url | https://doi.org/10.1177/1470320316659954 |
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