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

Furuzawa-Carballeda, J., Zuñiga, J., Hernández-Zaragoza, D. I., Barquera, R., Marques-García, E., Jiménez-Alvarez, L., et al. (2018). An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia. PLoS One, 13(8): e0201676. doi:10.1371/journal.pone.0201676.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0001-ECF9-D Version Permalink: http://hdl.handle.net/21.11116/0000-0001-ECFA-C
Genre: Journal Article

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 Creators:
Furuzawa-Carballeda, Janette, Author
Zuñiga, Joaquín, Author
Hernández-Zaragoza, Diana I.1, Author              
Barquera, Rodrigo1, Author              
Marques-García, Eduardo, Author
Jiménez-Alvarez, Luis, Author
Cruz-Lagunas, Alfredo, Author
Ramírez, Gustavo, Author
Regino, Nora E., Author
Espinosa-Soto, Ramón, Author
Yunis, Edmond J., Author
Romero-Hernández, Fernanda, Author
Azamar-Llamas, Daniel, Author
Coss-Adame, Enrique, Author
Valdovinos, Miguel A., Author
Torres-Landa, Samuel, Author
Palacios-Ramírez, Axel, Author
Breña, Blanca, Author
Alejandro-Medrano, Edgar, Author
Hernández-Ávila, Axel, Author
Granados, Julio, AuthorTorres-Villalobos, Gonzalo, Author more..
Affiliations:
1Archaeogenetics, Max Planck Institute for the Science of Human History, Max Planck Society, ou_2074310              

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 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.

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Language(s): eng - English
 Dates: 2018-08-09
 Publication Status: Published online
 Pages: 18
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1371/journal.pone.0201676
Other: shh1055
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Title: PLoS One
Source Genre: Journal
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Publ. Info: San Francisco, CA : Public Library of Science
Pages: - Volume / Issue: 13 (8) Sequence Number: e0201676 Start / End Page: - Identifier: ISSN: 1932-6203
CoNE: https://pure.mpg.de/cone/journals/resource/1000000000277850