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

Autor: Eduardo Marques-García, Samuel Torres-Landa, Rodrigo Barquera, Joaquín Zúñiga, Diana Iraíz Hernández-Zaragoza, Blanca A. Blancas Breña, Enrique Coss-Adame, Gustavo Ramírez, Axel A. Hernández-Ávila, Nora E. Regino, Axel Palacios-Ramírez, Edgar Alejandro-Medrano, Alfredo Cruz-Lagunas, Luis Jiménez-Alvarez, Edmond J. Yunis, Ramón Espinosa-Soto, Fernanda Romero-Hernández, Miguel A. Valdovinos, Julio Granados, Janette Furuzawa-Carballeda, Gonzalo Torres-Villalobos, Daniel Azamar-Llamas
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Male
Mexican People
Heredity
lcsh:Medicine
Achalasia
Artificial Gene Amplification and Extension
Polymerase Chain Reaction
Geographical Locations
0302 clinical medicine
immune system diseases
Ethnicity
Ethnicities
HLA-DQ beta-Chains
lcsh:Science
skin and connective tissue diseases
HLA-DRB1
Genetics
education.field_of_study
Multidisciplinary
Population groupings
Middle Aged
Europe
Genetic Mapping
Native American people
symbols
030211 gastroenterology & hepatology
Female
Research Article
musculoskeletal diseases
Adult
Population
Human leukocyte antigen
Biology
Research and Analysis Methods
03 medical and health sciences
symbols.namesake
Genetic variation
medicine
Humans
Genetic Predisposition to Disease
Allele
education
Molecular Biology Techniques
Mexico
Molecular Biology
Evolutionary Biology
Population Biology
lcsh:R
Haplotype
Biology and Life Sciences
Genetic Variation
Latin American people
medicine.disease
Esophageal Achalasia
Bonferroni correction
Genetics
Population

Haplotypes
Genetic Loci
Case-Control Studies
North America
lcsh:Q
People and places
Population Genetics
030215 immunology
HLA-DRB1 Chains
Zdroj: PLoS ONE
PLoS One
PLoS ONE, Vol 13, Iss 8, p e0201676 (2018)
ISSN: 1932-6203
Popis: 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
Databáze: OpenAIRE