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An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia.

Janette Furuzawa-Carballeda, Joaquín Zuñiga, Diana I Hernández-Zaragoza, Rodrigo Barquera, Eduardo Marques-García, Luis Jiménez-Alvarez, Alfredo Cruz-Lagunas, Gustavo Ramírez, Nora E Regino, Ramón Espinosa-Soto, Edmond J Yunis, Fernanda Romero-Hernández, Daniel Azamar-Llamas, Enrique Coss-Adame, Miguel A Valdovinos, Samuel Torres-Landa, Axel Palacios-Ramírez, Blanca Breña, Edgar Alejandro-Medrano, Axel Hernández-Ávila, Julio Granados, Gonzalo Torres-Villalobos

Journal: PloS one 2019;13(8):e0201676

PMID: 30092016

Free Full Text on Public Library of Science View on PubMed

Abstract

Idiopathic achalasia is a relatively infrequent esophageal motor disorder for which major histocompatibility complex (MHC) genes are well-identified risk factors. However, no information about HLA-achalasia susceptibility in Mexicans has previously been reported. We studied a group of 91 patients diagnosed with achalasia and 234 healthy controls with Mexican admixed ancestry. HLA alleles and conserved extended haplotypes were analyzed using high-resolution HLA typing based on Sanger and next-generation sequencing technologies. Admixture estimates were determined using HLA-B and short tandem repeats. Results were analyzed by non-parametric statistical analysis and Bonferroni correction. P-values < 0.05 were considered significant. Patients with achalasia had 56.7% Native American genes, 24.7% European genes, 16.5% African genes and 2.0% Asian genes, which was comparable with the estimates in the controls. Significant increases in the frequencies of alleles DRB1*14:54 and DQB1*05:03 and the extended haplotypes DRB1*14:54-DQB1*05:03 and DRB1*11:01-DQB1*03:01, even after Bonferroni correction (pC<0.05), were found in the achalasia group compared to those in the controls. Concluding, the HLA class II alleles HLA-DRB1*14:54:01 and DQB1*05:03:01 and the extended haplotype are risk factors for achalasia in mixed-ancestry Mexican individuals. These results also suggest that the HLA-DRB1*14:54-DQB1*05:03 haplotype was introduced by admixture with European and/or Asian populations.

Address: Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Laboratory of Immunobiology and Genetics, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.; School of Medicine and Health Sciences, Instituto Tecnológico y de Estudios Superiores de Monterrey, Mexico City, Mexico.; Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany.; Laboratory of Immunobiology and Genetics, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.; School of Medicine and Health Sciences, Instituto Tecnológico y de Estudios Superiores de Monterrey, Mexico City, Mexico.; Department of Cancer Immunology and AIDS, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, United States of America.; Department of Experimental Surgery, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Department of Gastroenterology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Department of Transplants, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Department of Experimental Surgery, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Department of Surgery, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
DOI: 10.1371/journal.pone.0201676

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MeSH Terms: Adult, Case-Control Studies, Esophageal Achalasia, Ethnicity, Female, Genetic Predisposition to Disease, Genetic Variation, Genetics, Population, HLA-DQ beta-Chains, HLA-DRB1 Chains, Haplotypes, Humans, Male, Mexico, Middle Aged
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