% pubman genre = article @article{item_3257001, title = {{An original Eurasian haplotype, HLA-DRB1{\textasteriskcentered}14:54-DQB1{\textasteriskcentered}05:03, influences the susceptibility to idiopathic achalasia}}, author = {Furuzawa-Carballeda, Janette and Zu{\~n}iga, Joaqu{\'\i}n and Hern{\'a}ndez-Zaragoza, Diana I. and Barquera, Rodrigo and Marques-Garc{\'\i}a, Eduardo and Jim{\'e}nez-Alvarez, Luis and Cruz-Lagunas, Alfredo and Ram{\'\i}rez, Gustavo and Regino, Nora E. and Espinosa-Soto, Ram{\'o}n and Yunis, Edmond J. and Romero-Hern{\'a}ndez, Fernanda and Azamar-Llamas, Daniel and Coss-Adame, Enrique and Valdovinos, Miguel A. and Torres-Landa, Samuel and Palacios-Ram{\'\i}rez, Axel and Bre{\~n}a, Blanca and Alejandro-Medrano, Edgar and Hern{\'a}ndez-{\'A}vila, Axel and Granados, Julio and Torres-Villalobos, Gonzalo}, language = {eng}, issn = {1932-6203}, doi = {10.1371/journal.pone.0201676}, publisher = {Public Library of Science}, address = {San Francisco, CA}, year = {2018}, 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 {\textless} 0.05 were considered significant. Patients with achalasia had 56.7{\textpercent} Native American genes, 24.7{\textpercent} European genes, 16.5{\textpercent} African genes and 2.0{\textpercent} Asian genes, which was comparable with the estimates in the controls. Significant increases in the frequencies of alleles DRB1{\textasteriskcentered}14:54 and DQB1{\textasteriskcentered}05:03 and the extended haplotypes DRB1{\textasteriskcentered}14:54-DQB1{\textasteriskcentered}05:03 and DRB1{\textasteriskcentered}11:01-DQB1{\textasteriskcentered}03:01, even after Bonferroni correction (pC{\textless}0.05), were found in the achalasia group compared to those in the controls. Concluding, the HLA class II alleles HLA-DRB1{\textasteriskcentered}14:54:01 and DQB1{\textasteriskcentered}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{\textasteriskcentered}14:54-DQB1{\textasteriskcentered}05:03 haplotype was introduced by admixture with European and/or Asian populations.}}, journal = {{PLoS One}}, volume = {13}, number = {8}, eid = {e0201676}, }