title: Angiotensin II Type 1 receptor (AGTR1) gene polymorphisms are associated with vascular manifestations in patients with systemic sclerosis (SSc).
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: Department 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.
authors.forename: Tatiana S
authors.initials: TS
authors.lastname: Rodríguez-Reyna
authors.affiliation: Department 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.
authors.forename: Carlos
authors.initials: C
authors.lastname: Núñez-Alvarez
authors.affiliation: Department of Immunology, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, Mexico.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Cruz-Lagunas
authors.affiliation: Department of Endocrinology, Instituto Nacional de Cardiología Ignacio Chávez [Ignacio Chávez National Institute of Cardiology], Mexico City, Mexico.
authors.forename: Rosalinda
authors.initials: R
authors.lastname: Posadas-Sánchez
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez [Ignacio Chávez National Institute of Cardiology], Mexico City, Mexico.
authors.forename: Nonanzit
authors.initials: N
authors.lastname: Pérez-Hernández
authors.affiliation: Department of Immunology, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, Mexico.
authors.forename: Luis
authors.initials: L
authors.lastname: Jiménez-Alvarez
authors.affiliation: Department of Immunology, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, Mexico.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Ramírez-Martínez
authors.affiliation: Department of Transplantation, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán [National Institute of Medical Sciences and Nutrition Salvador Zubirán], Mexico City, Mexico.
authors.forename: Julio
authors.initials: J
authors.lastname: Granados
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez [Ignacio Chávez National Institute of Cardiology], Mexico City, Mexico.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Vargas-Alarcón
authors.affiliation: Department of Immunology, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas [National Institute of Respiratory Diseases Ismael Cosío Villegas], Mexico City, Mexico.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Zúñiga
mesh_terms: D000328:Adult; D001808:Blood Vessels / Q000473:pathology*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000235:genetics*
chemical_list: D044140:Receptor, Angiotensin, Type 1
keywords: Angiotensin; Hispanic patients; angiotensin II Type 1 receptor; finger ulcers; fingertip ulcers; polymorphisms; renin-angiotensin-aldosterone system; scleroderma; vasculopathy