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...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: SAGE Publications 2016-07-01
Series:Journal of the Renin-Angiotensin-Aldosterone System
Online Access:https://doi.org/10.1177/1470320316659954
_version_ 1797283582348099584
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
format Article
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
record_format Article
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
work_keys_str_mv AT tatianasrodriguezreyna angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT carlosnunezalvarez angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT alfredocruzlagunas angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT rosalindaposadassanchez angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT nonanzitperezhernandez angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT luisjimenezalvarez angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT gustavoramirezmartinez angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT juliogranados angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT gilbertovargasalarcon angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc
AT joaquinzuniga angiotensiniitype1receptoragtr1genepolymorphismsareassociatedwithvascularmanifestationsinpatientswithsystemicsclerosisssc