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An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia

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

PloS one, 2018-08, Vol.13 (8), p.e0201676-e0201676 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia
Autor: Furuzawa-Carballeda, Janette ; Zuñiga, Joaquín ; Hernández-Zaragoza, Diana I ; Barquera, Rodrigo ; Marques-García, Eduardo ; Jiménez-Alvarez, Luis ; Cruz-Lagunas, Alfredo ; Ramírez, Gustavo ; Regino, Nora E ; Espinosa-Soto, Ramón ; Yunis, Edmond J ; Romero-Hernández, Fernanda ; Azamar-Llamas, Daniel ; Coss-Adame, Enrique ; Valdovinos, Miguel A ; Torres-Landa, Samuel ; Palacios-Ramírez, Axel ; Breña, Blanca ; Alejandro-Medrano, Edgar ; Hernández-Ávila, Axel ; Granados, Julio ; Torres-Villalobos, Gonzalo
Thameem, Farook
Assuntos: Achalasia ; Admixtures ; Alleles ; Analysis ; Antigens ; Biology and Life Sciences ; Diagnosis ; Disease susceptibility ; DNA sequencing ; Drb1 protein ; Esophagus ; Gastroenterology ; Gene frequency ; Genes ; Genetic aspects ; Genetic research ; Genetics ; Haplotypes ; Health sciences ; Histocompatibility antigen HLA ; Immunology ; Laboratories ; Lupus ; Major histocompatibility complex ; Minority & ethnic groups ; Nucleotide sequencing ; Patients ; People and places ; Research and Analysis Methods ; Rheumatology ; Risk analysis ; Risk factors ; Roma ; Romani people ; Short tandem repeats ; Statistical analysis ; Surgery ; Tissue typing ; Typing
É parte de: PloS one, 2018-08, Vol.13 (8), p.e0201676-e0201676
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Competing Interests: The authors have declared that no competing interests exist.
Descrição: 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.
Editor: United States: Public Library of Science
Idioma: Inglês

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An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia

United States: Public Library of Science

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