%0 Journal Article %A Furuzawa-Carballeda, Janette %A Zuñiga, Joaquín %A Hernández-Zaragoza, Diana I. %A Barquera, Rodrigo %A Marques-García, Eduardo %A Jiménez-Alvarez, Luis %A Cruz-Lagunas, Alfredo %A Ramírez, Gustavo %A Regino, Nora E. %A Espinosa-Soto, Ramón %A Yunis, Edmond J. %A Romero-Hernández, Fernanda %A Azamar-Llamas, Daniel %A Coss-Adame, Enrique %A Valdovinos, Miguel A. %A Torres-Landa, Samuel %A Palacios-Ramírez, Axel %A Breña, Blanca %A Alejandro-Medrano, Edgar %A Hernández-Ávila, Axel %A Granados, Julio %A Torres-Villalobos, Gonzalo %+ Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society %T An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia : %G eng %U https://hdl.handle.net/21.11116/0000-0007-2BD1-D %R 10.1371/journal.pone.0201676 %F OTHER: shh1055 %7 2018-08-09 %D 2018 %8 09.08.2018 %* Review method: peer-reviewed %X 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. %J PLoS One %V 13 %N 8 %] e0201676 %I Public Library of Science %C San Francisco, CA %@ 1932-6203