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Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms

BACKGROUND: Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, genetic predisposition and ethnic susceptibility. Due to the association with autoimm...

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Autores principales: Anaya-Ayala, Javier E., Hernandez-Doño, Susana, Escamilla-Tilch, Monica, Marquez-Garcia, Jose, Hernandez-Sotelo, Kemberly, Lozano-Corona, Rodrigo, Ruiz-Gomez, Daniela, Granados, Julio, Hinojosa, Carlos A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555914/
https://www.ncbi.nlm.nih.gov/pubmed/31174489
http://dx.doi.org/10.1186/s12881-019-0833-8
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author Anaya-Ayala, Javier E.
Hernandez-Doño, Susana
Escamilla-Tilch, Monica
Marquez-Garcia, Jose
Hernandez-Sotelo, Kemberly
Lozano-Corona, Rodrigo
Ruiz-Gomez, Daniela
Granados, Julio
Hinojosa, Carlos A.
author_facet Anaya-Ayala, Javier E.
Hernandez-Doño, Susana
Escamilla-Tilch, Monica
Marquez-Garcia, Jose
Hernandez-Sotelo, Kemberly
Lozano-Corona, Rodrigo
Ruiz-Gomez, Daniela
Granados, Julio
Hinojosa, Carlos A.
author_sort Anaya-Ayala, Javier E.
collection PubMed
description BACKGROUND: Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, genetic predisposition and ethnic susceptibility. Due to the association with autoimmune diseases and proven application in population genetics, we aimed to investigate alleles of the Class II Human Leukocyte Antigens (HLA-DRB1) in the Mexican Mestizo population with aortic aneurysms and determine possible associations with susceptibility. METHODS: We performed a case Control Study; the HLA molecular typing was completed for DRB1 loci by LabType Sequence-Specific Oligonucleotide (SSO) SSO-OneLambda kit (Applied Biosystems; Thermo Fisher Scientific. Inc.) in the studied individuals. Allele frequencies (af) were determined, associations were assessed by chi square or fisher exact tests at significance level (< 0.05), and Odds Ratios (OR) were calculated using the STATA software version 14. RESULTS: The genetic polymorphism of HLA-DRB1 of fifty one patients (70% males with a mean age of 71 years) with atherosclerotic or also known as degenerative AAA were compared with 99 unrelated patients (60% males, mean age 65 years) without the disease [Control group (CG)] from the same ethnic group. We examined a total of 102 Class II HLA-DRB1 alleles of AAA patients and 198 from CG. When comparing af, we observed the HLA-DRB1*01 af of 0.139 in the AAA compared to 0.05 in the CG [p = 0.015, OR 3, 95% confidence interval (CI) 1.29–7.08], the HLA-DRB1*16 af were 0.109 in the AAA and 0.025 in CG (p = 0.006, OR 4.7, 95% CI 1.59–13.98). CONCLUSIONS: Our study confirmed increased frequencies of the alleles HLA-DRB1*01 and HLA-DRB1*16 and their association to the development of AAA in Mexican Mestizo patients. The utility of genetic testing may assist in identifying individuals at genetic risk for the development of this disease in different ethnic groups, who might benefit from earlier ultrasound screening and closer imaging surveillance.
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spelling pubmed-65559142019-06-10 Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms Anaya-Ayala, Javier E. Hernandez-Doño, Susana Escamilla-Tilch, Monica Marquez-Garcia, Jose Hernandez-Sotelo, Kemberly Lozano-Corona, Rodrigo Ruiz-Gomez, Daniela Granados, Julio Hinojosa, Carlos A. BMC Med Genet Research Article BACKGROUND: Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, genetic predisposition and ethnic susceptibility. Due to the association with autoimmune diseases and proven application in population genetics, we aimed to investigate alleles of the Class II Human Leukocyte Antigens (HLA-DRB1) in the Mexican Mestizo population with aortic aneurysms and determine possible associations with susceptibility. METHODS: We performed a case Control Study; the HLA molecular typing was completed for DRB1 loci by LabType Sequence-Specific Oligonucleotide (SSO) SSO-OneLambda kit (Applied Biosystems; Thermo Fisher Scientific. Inc.) in the studied individuals. Allele frequencies (af) were determined, associations were assessed by chi square or fisher exact tests at significance level (< 0.05), and Odds Ratios (OR) were calculated using the STATA software version 14. RESULTS: The genetic polymorphism of HLA-DRB1 of fifty one patients (70% males with a mean age of 71 years) with atherosclerotic or also known as degenerative AAA were compared with 99 unrelated patients (60% males, mean age 65 years) without the disease [Control group (CG)] from the same ethnic group. We examined a total of 102 Class II HLA-DRB1 alleles of AAA patients and 198 from CG. When comparing af, we observed the HLA-DRB1*01 af of 0.139 in the AAA compared to 0.05 in the CG [p = 0.015, OR 3, 95% confidence interval (CI) 1.29–7.08], the HLA-DRB1*16 af were 0.109 in the AAA and 0.025 in CG (p = 0.006, OR 4.7, 95% CI 1.59–13.98). CONCLUSIONS: Our study confirmed increased frequencies of the alleles HLA-DRB1*01 and HLA-DRB1*16 and their association to the development of AAA in Mexican Mestizo patients. The utility of genetic testing may assist in identifying individuals at genetic risk for the development of this disease in different ethnic groups, who might benefit from earlier ultrasound screening and closer imaging surveillance. BioMed Central 2019-06-07 /pmc/articles/PMC6555914/ /pubmed/31174489 http://dx.doi.org/10.1186/s12881-019-0833-8 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Anaya-Ayala, Javier E.
Hernandez-Doño, Susana
Escamilla-Tilch, Monica
Marquez-Garcia, Jose
Hernandez-Sotelo, Kemberly
Lozano-Corona, Rodrigo
Ruiz-Gomez, Daniela
Granados, Julio
Hinojosa, Carlos A.
Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title_full Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title_fullStr Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title_full_unstemmed Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title_short Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms
title_sort genetic polymorphism of hla-drb1 alleles in mexican mestizo patients with abdominal aortic aneurysms
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555914/
https://www.ncbi.nlm.nih.gov/pubmed/31174489
http://dx.doi.org/10.1186/s12881-019-0833-8
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