Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population
Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene seque...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426416/ https://www.ncbi.nlm.nih.gov/pubmed/32792643 http://dx.doi.org/10.1038/s41598-020-69224-3 |
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author | Romero-Hidalgo, Sandra Flores-Rivera, José Rivas-Alonso, Verónica Barquera, Rodrigo Villarreal-Molina, María Teresa Antuna-Puente, Bárbara Macias-Kauffer, Luis Rodrigo Villalobos-Comparán, Marisela Ortiz-Maldonado, Jair Yu, Neng Lebedeva, Tatiana V. Alosco, Sharon M. García-Rodríguez, Juan Daniel González-Torres, Carolina Rosas-Madrigal, Sandra Ordoñez, Graciela Guerrero-Camacho, Jorge Luis Treviño-Frenk, Irene Escamilla-Tilch, Monica García-Lechuga, Maricela Tovar-Méndez, Víctor Hugo Pacheco-Ubaldo, Hanna Acuña-Alonzo, Victor Bortolini, Maria-Cátira Gallo, Carla Bedoya, Gabriel Rothhammer, Francisco González-Jose, Rolando Ruiz-Linares, Andrés Canizales-Quinteros, Samuel Yunis, Edmond Granados, Julio Corona, Teresa |
author_facet | Romero-Hidalgo, Sandra Flores-Rivera, José Rivas-Alonso, Verónica Barquera, Rodrigo Villarreal-Molina, María Teresa Antuna-Puente, Bárbara Macias-Kauffer, Luis Rodrigo Villalobos-Comparán, Marisela Ortiz-Maldonado, Jair Yu, Neng Lebedeva, Tatiana V. Alosco, Sharon M. García-Rodríguez, Juan Daniel González-Torres, Carolina Rosas-Madrigal, Sandra Ordoñez, Graciela Guerrero-Camacho, Jorge Luis Treviño-Frenk, Irene Escamilla-Tilch, Monica García-Lechuga, Maricela Tovar-Méndez, Víctor Hugo Pacheco-Ubaldo, Hanna Acuña-Alonzo, Victor Bortolini, Maria-Cátira Gallo, Carla Bedoya, Gabriel Rothhammer, Francisco González-Jose, Rolando Ruiz-Linares, Andrés Canizales-Quinteros, Samuel Yunis, Edmond Granados, Julio Corona, Teresa |
author_sort | Romero-Hidalgo, Sandra |
collection | PubMed |
description | Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10(–6)). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10(–10)). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America. |
format | Online Article Text |
id | pubmed-7426416 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-74264162020-08-14 Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population Romero-Hidalgo, Sandra Flores-Rivera, José Rivas-Alonso, Verónica Barquera, Rodrigo Villarreal-Molina, María Teresa Antuna-Puente, Bárbara Macias-Kauffer, Luis Rodrigo Villalobos-Comparán, Marisela Ortiz-Maldonado, Jair Yu, Neng Lebedeva, Tatiana V. Alosco, Sharon M. García-Rodríguez, Juan Daniel González-Torres, Carolina Rosas-Madrigal, Sandra Ordoñez, Graciela Guerrero-Camacho, Jorge Luis Treviño-Frenk, Irene Escamilla-Tilch, Monica García-Lechuga, Maricela Tovar-Méndez, Víctor Hugo Pacheco-Ubaldo, Hanna Acuña-Alonzo, Victor Bortolini, Maria-Cátira Gallo, Carla Bedoya, Gabriel Rothhammer, Francisco González-Jose, Rolando Ruiz-Linares, Andrés Canizales-Quinteros, Samuel Yunis, Edmond Granados, Julio Corona, Teresa Sci Rep Article Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10(–6)). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10(–10)). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America. Nature Publishing Group UK 2020-08-13 /pmc/articles/PMC7426416/ /pubmed/32792643 http://dx.doi.org/10.1038/s41598-020-69224-3 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Romero-Hidalgo, Sandra Flores-Rivera, José Rivas-Alonso, Verónica Barquera, Rodrigo Villarreal-Molina, María Teresa Antuna-Puente, Bárbara Macias-Kauffer, Luis Rodrigo Villalobos-Comparán, Marisela Ortiz-Maldonado, Jair Yu, Neng Lebedeva, Tatiana V. Alosco, Sharon M. García-Rodríguez, Juan Daniel González-Torres, Carolina Rosas-Madrigal, Sandra Ordoñez, Graciela Guerrero-Camacho, Jorge Luis Treviño-Frenk, Irene Escamilla-Tilch, Monica García-Lechuga, Maricela Tovar-Méndez, Víctor Hugo Pacheco-Ubaldo, Hanna Acuña-Alonzo, Victor Bortolini, Maria-Cátira Gallo, Carla Bedoya, Gabriel Rothhammer, Francisco González-Jose, Rolando Ruiz-Linares, Andrés Canizales-Quinteros, Samuel Yunis, Edmond Granados, Julio Corona, Teresa Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title | Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title_full | Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title_fullStr | Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title_full_unstemmed | Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title_short | Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population |
title_sort | native american ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed mexican population |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426416/ https://www.ncbi.nlm.nih.gov/pubmed/32792643 http://dx.doi.org/10.1038/s41598-020-69224-3 |
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