An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia
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 di...
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| creator | 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 |
| description | 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 |
| doi_str_mv | 10.1371/journal.pone.0201676 |
| format | Article |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0201676</identifier><identifier>PMID: 30092016</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>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 ; 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</subject><ispartof>PloS one, 2018-08, Vol.13 (8), p.e0201676-e0201676</ispartof><rights>COPYRIGHT 2018 Public Library of Science</rights><rights>2018 Furuzawa-Carballeda et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2018 Furuzawa-Carballeda et al 2018 Furuzawa-Carballeda et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c758t-11a99b2c7074e10c37cf59578330ba8d3e0e3d28a6b8717ec230a8f030942af73</citedby><cites>FETCH-LOGICAL-c758t-11a99b2c7074e10c37cf59578330ba8d3e0e3d28a6b8717ec230a8f030942af73</cites><orcidid>0000-0002-5311-9633 ; 0000-0002-7821-3589 ; 0000-0001-5804-7221 ; 0000-0003-0518-4518</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084941/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084941/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,729,782,786,866,887,2106,2932,23875,27933,27934,53800,53802</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30092016$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Thameem, Farook</contributor><creatorcontrib>Furuzawa-Carballeda, Janette</creatorcontrib><creatorcontrib>Zuñiga, Joaquín</creatorcontrib><creatorcontrib>Hernández-Zaragoza, Diana I</creatorcontrib><creatorcontrib>Barquera, Rodrigo</creatorcontrib><creatorcontrib>Marques-García, Eduardo</creatorcontrib><creatorcontrib>Jiménez-Alvarez, Luis</creatorcontrib><creatorcontrib>Cruz-Lagunas, Alfredo</creatorcontrib><creatorcontrib>Ramírez, Gustavo</creatorcontrib><creatorcontrib>Regino, Nora E</creatorcontrib><creatorcontrib>Espinosa-Soto, Ramón</creatorcontrib><creatorcontrib>Yunis, Edmond J</creatorcontrib><creatorcontrib>Romero-Hernández, Fernanda</creatorcontrib><creatorcontrib>Azamar-Llamas, Daniel</creatorcontrib><creatorcontrib>Coss-Adame, Enrique</creatorcontrib><creatorcontrib>Valdovinos, Miguel A</creatorcontrib><creatorcontrib>Torres-Landa, Samuel</creatorcontrib><creatorcontrib>Palacios-Ramírez, Axel</creatorcontrib><creatorcontrib>Breña, Blanca</creatorcontrib><creatorcontrib>Alejandro-Medrano, Edgar</creatorcontrib><creatorcontrib>Hernández-Ávila, Axel</creatorcontrib><creatorcontrib>Granados, Julio</creatorcontrib><creatorcontrib>Torres-Villalobos, Gonzalo</creatorcontrib><title>An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>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.</description><subject>Achalasia</subject><subject>Admixtures</subject><subject>Alleles</subject><subject>Analysis</subject><subject>Antigens</subject><subject>Biology and Life Sciences</subject><subject>Diagnosis</subject><subject>Disease susceptibility</subject><subject>DNA sequencing</subject><subject>Drb1 protein</subject><subject>Esophagus</subject><subject>Gastroenterology</subject><subject>Gene frequency</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic research</subject><subject>Genetics</subject><subject>Haplotypes</subject><subject>Health sciences</subject><subject>Histocompatibility antigen HLA</subject><subject>Immunology</subject><subject>Laboratories</subject><subject>Lupus</subject><subject>Major histocompatibility complex</subject><subject>Minority & ethnic groups</subject><subject>Patients</subject><subject>People and places</subject><subject>Research and Analysis Methods</subject><subject>Rheumatology</subject><subject>Risk analysis</subject><subject>Risk factors</subject><subject>Roma</subject><subject>Romani people</subject><subject>Short tandem repeats</subject><subject>Statistical analysis</subject><subject>Surgery</subject><subject>Tissue 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original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia</title><author>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, 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Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Furuzawa-Carballeda, Janette</au><au>Zuñiga, Joaquín</au><au>Hernández-Zaragoza, Diana I</au><au>Barquera, Rodrigo</au><au>Marques-García, Eduardo</au><au>Jiménez-Alvarez, Luis</au><au>Cruz-Lagunas, Alfredo</au><au>Ramírez, Gustavo</au><au>Regino, Nora E</au><au>Espinosa-Soto, Ramón</au><au>Yunis, Edmond J</au><au>Romero-Hernández, Fernanda</au><au>Azamar-Llamas, Daniel</au><au>Coss-Adame, Enrique</au><au>Valdovinos, Miguel A</au><au>Torres-Landa, Samuel</au><au>Palacios-Ramírez, Axel</au><au>Breña, Blanca</au><au>Alejandro-Medrano, Edgar</au><au>Hernández-Ávila, Axel</au><au>Granados, Julio</au><au>Torres-Villalobos, Gonzalo</au><au>Thameem, Farook</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2018-08-09</date><risdate>2018</risdate><volume>13</volume><issue>8</issue><spage>e0201676</spage><epage>e0201676</epage><pages>e0201676-e0201676</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>30092016</pmid><doi>10.1371/journal.pone.0201676</doi><tpages>e0201676</tpages><orcidid>https://orcid.org/0000-0002-5311-9633</orcidid><orcidid>https://orcid.org/0000-0002-7821-3589</orcidid><orcidid>https://orcid.org/0000-0001-5804-7221</orcidid><orcidid>https://orcid.org/0000-0003-0518-4518</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2018-08, Vol.13 (8), p.e0201676-e0201676 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2086258440 |
| source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS) Journals Open Access; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | 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 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 |
| title | An original Eurasian haplotype, HLA-DRB114:54-DQB105:03, influences the susceptibility to idiopathic achalasia |
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