HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala
Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune respo...
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creator | Barrios-Menéndez, Juan C. Carías-Alvarado, César Camilo Cayax, Lilian Isabel López-Hun, Francisco Santizo, Adolfo Herrera, Maynor A. Hernández-Zaragoza, Diana Iraíz Escobar-Castro, Karla |
description | Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association. |
doi_str_mv | 10.1016/j.humimm.2024.110803 |
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One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association.</description><identifier>ISSN: 0198-8859</identifier><identifier>ISSN: 1879-1166</identifier><identifier>EISSN: 1879-1166</identifier><identifier>DOI: 10.1016/j.humimm.2024.110803</identifier><identifier>PMID: 38653667</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Alleles ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Guatemala ; Haplotypes ; HLA Class II ; HLA-DQ beta-Chains - genetics ; HLA-DRB1 Chains - genetics ; Human leukocyte antigen system ; Humans ; Immunogenetics ; Lupus Erythematosus, Systemic - diagnosis ; Lupus Erythematosus, Systemic - genetics ; Male ; Middle Aged ; Systemic lupus erythematosus ; Young Adult</subject><ispartof>Human immunology, 2024-05, Vol.85 (3), p.110803, Article 110803</ispartof><rights>2024</rights><rights>Copyright © 2024. Published by Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c311t-1564edbe5500d788fb8afd2357a673485a03878aeed6a749c9eda33197c137ef3</cites><orcidid>0000-0002-8722-0350 ; 0000-0003-4038-4777 ; 0000-0001-5987-5934</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.humimm.2024.110803$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,782,786,3554,27933,27934,46004</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38653667$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Barrios-Menéndez, Juan C.</creatorcontrib><creatorcontrib>Carías-Alvarado, César Camilo</creatorcontrib><creatorcontrib>Cayax, Lilian Isabel</creatorcontrib><creatorcontrib>López-Hun, Francisco</creatorcontrib><creatorcontrib>Santizo, Adolfo</creatorcontrib><creatorcontrib>Herrera, Maynor A.</creatorcontrib><creatorcontrib>Hernández-Zaragoza, Diana Iraíz</creatorcontrib><creatorcontrib>Escobar-Castro, Karla</creatorcontrib><title>HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala</title><title>Human immunology</title><addtitle>Hum Immunol</addtitle><description>Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alleles</subject><subject>Case-Control Studies</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Guatemala</subject><subject>Haplotypes</subject><subject>HLA Class II</subject><subject>HLA-DQ beta-Chains - genetics</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Human leukocyte antigen system</subject><subject>Humans</subject><subject>Immunogenetics</subject><subject>Lupus Erythematosus, Systemic - diagnosis</subject><subject>Lupus Erythematosus, Systemic - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Systemic lupus erythematosus</subject><subject>Young Adult</subject><issn>0198-8859</issn><issn>1879-1166</issn><issn>1879-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kFtPGzEQhS1UBCH0HyDkx75s8MTry75UopSbFAlRlWfXsWcTR3tJ196i_HuWbMojT6OjOWeO5iPkAtgMGMirzWzd16GuZ3M2z2cATDN-RCagVZEBSPmFTBgUOtNaFKfkLMYNY0wxlZ-QU66l4FKqCfnzsLjOfv76AdQ2nu7F8yBW2GCkoaFbmwI2KVIf7KppI3r6GtKaxl1MWAdHq37bR4rdLq2xtqmN_T5339thbyt7To5LW0X8ephT8nJ3-_vmIVs83T_eXC8yxwFSBkLm6JcoBGNeaV0utS39nAtlpeK5FpZxrbRF9NKqvHAFess5FMoBV1jyKfk23t127d8eYzJ1iA6ryjbY9tFwlguAQoIYrPlodV0bY4el2Xahtt3OADPvbM3GjGzNO1szsh1il4eGflmj_wj9hzkYvo8GHP78F7Az0Q3wHPrQoUvGt-HzhjfhN4uD</recordid><startdate>20240501</startdate><enddate>20240501</enddate><creator>Barrios-Menéndez, Juan C.</creator><creator>Carías-Alvarado, César Camilo</creator><creator>Cayax, Lilian Isabel</creator><creator>López-Hun, Francisco</creator><creator>Santizo, Adolfo</creator><creator>Herrera, Maynor A.</creator><creator>Hernández-Zaragoza, Diana Iraíz</creator><creator>Escobar-Castro, Karla</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-8722-0350</orcidid><orcidid>https://orcid.org/0000-0003-4038-4777</orcidid><orcidid>https://orcid.org/0000-0001-5987-5934</orcidid></search><sort><creationdate>20240501</creationdate><title>HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala</title><author>Barrios-Menéndez, Juan C. ; Carías-Alvarado, César Camilo ; Cayax, Lilian Isabel ; López-Hun, Francisco ; Santizo, Adolfo ; Herrera, Maynor A. ; Hernández-Zaragoza, Diana Iraíz ; Escobar-Castro, Karla</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-1564edbe5500d788fb8afd2357a673485a03878aeed6a749c9eda33197c137ef3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alleles</topic><topic>Case-Control Studies</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Guatemala</topic><topic>Haplotypes</topic><topic>HLA Class II</topic><topic>HLA-DQ beta-Chains - genetics</topic><topic>HLA-DRB1 Chains - genetics</topic><topic>Human leukocyte antigen system</topic><topic>Humans</topic><topic>Immunogenetics</topic><topic>Lupus Erythematosus, Systemic - diagnosis</topic><topic>Lupus Erythematosus, Systemic - genetics</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Systemic lupus erythematosus</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Barrios-Menéndez, Juan C.</creatorcontrib><creatorcontrib>Carías-Alvarado, César Camilo</creatorcontrib><creatorcontrib>Cayax, Lilian Isabel</creatorcontrib><creatorcontrib>López-Hun, Francisco</creatorcontrib><creatorcontrib>Santizo, Adolfo</creatorcontrib><creatorcontrib>Herrera, Maynor A.</creatorcontrib><creatorcontrib>Hernández-Zaragoza, Diana Iraíz</creatorcontrib><creatorcontrib>Escobar-Castro, Karla</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Barrios-Menéndez, Juan C.</au><au>Carías-Alvarado, César Camilo</au><au>Cayax, Lilian Isabel</au><au>López-Hun, Francisco</au><au>Santizo, Adolfo</au><au>Herrera, Maynor A.</au><au>Hernández-Zaragoza, Diana Iraíz</au><au>Escobar-Castro, Karla</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala</atitle><jtitle>Human immunology</jtitle><addtitle>Hum Immunol</addtitle><date>2024-05-01</date><risdate>2024</risdate><volume>85</volume><issue>3</issue><spage>110803</spage><pages>110803-</pages><artnum>110803</artnum><issn>0198-8859</issn><issn>1879-1166</issn><eissn>1879-1166</eissn><abstract>Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>38653667</pmid><doi>10.1016/j.humimm.2024.110803</doi><orcidid>https://orcid.org/0000-0002-8722-0350</orcidid><orcidid>https://orcid.org/0000-0003-4038-4777</orcidid><orcidid>https://orcid.org/0000-0001-5987-5934</orcidid></addata></record> |
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subjects | Adolescent Adult Alleles Case-Control Studies Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Genotype Guatemala Haplotypes HLA Class II HLA-DQ beta-Chains - genetics HLA-DRB1 Chains - genetics Human leukocyte antigen system Humans Immunogenetics Lupus Erythematosus, Systemic - diagnosis Lupus Erythematosus, Systemic - genetics Male Middle Aged Systemic lupus erythematosus Young Adult |
title | HLA-DRB1 and HLA-DQB1 genes in patients diagnosed with systemic lupus erythematosus in Guatemala |
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