Isaac A López-Briceño,Julian Ramírez-Bello,Isela Montúfar-Robles,Rosa Elda Barbosa-Cobos,Angélica V Ángulo-Ramírez,Guillermo Valencia-Pacheco
{"title":"IRF5 变异是两个墨西哥人群患系统性红斑狼疮的风险因素。","authors":"Isaac A López-Briceño,Julian Ramírez-Bello,Isela Montúfar-Robles,Rosa Elda Barbosa-Cobos,Angélica V Ángulo-Ramírez,Guillermo Valencia-Pacheco","doi":"10.1097/rhu.0000000000002121","DOIUrl":null,"url":null,"abstract":"INTRODUCTION\r\nInterferon regulatory factor 5 (IRF5) is one of the pivotal genes implicated in systemic lupus erythematosus (SLE) among diverse ethnic groups, including Europeans, Asians, Hispanics, and Africans. Notably, its significance appears particularly pronounced among Hispanic populations. Previous studies have identified several single-nucleotide variants within IRF5, such as rs2004640G/T, rs2070197T/C, and rs10954213G/A, as associated with susceptibility to SLE among patients from Mexico City. However, the population of Yucatan, located in the Southeast of Mexico and characterized by a greater Amerindian genetic component, remains largely unexplored in this regard.\r\n\r\nOBJECTIVES\r\nOur study aimed to replicate the observed association between IRF5 variants and susceptibility to SLE among patients from Central Mexico and Yucatan. Furthermore, we investigated the impact of IRF5 rs59110799G/T, a variant that has not been previously studied in SLE individuals.\r\n\r\nMETHOD\r\nOur study included 204 SLE patients and 160 controls from Central Mexico, as well as 184 SLE patients and 184 controls from Yucatan. All participants were females 18 years and older. We employed a TaqMan assay to detect the presence of the following single-nucleotide variants: rs2004640G/T, rs2070197T/C, rs10954213G/A, and rs59110799G/T. Furthermore, we utilized 2 distinct web tools and databases to predict the potential functional implications of IRF5 variants.\r\n\r\nRESULTS\r\nIn SLE patients from Central Mexico, several IRF5 alleles showed significant associations with the disease following adjustment by the Bonferroni test: the rs2070197C allele (odds ratio [OR], 2.08), the rs10954213A allele (OR, 1.59), and the rs59110799G allele (OR, 1.71). Conversely, among patients from Yucatan, the following alleles showed associations: rs2004640T (OR, 1.51), rs2070197C (OR, 1.62), rs10954213A (OR, 1.67), and rs59110799G (OR, 1.44).\r\n\r\nCONCLUSION\r\nOur findings highlight genetic variations between Mexican populations and emphasize the role of IRF5 as a risk factor in SLE patients from both Central Mexico and Yucatan.","PeriodicalId":14745,"journal":{"name":"JCR: Journal of Clinical Rheumatology","volume":"3 1","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"IRF5 Variants Are Risk Factors for Systemic Lupus Erythematosus in 2 Mexican Populations.\",\"authors\":\"Isaac A López-Briceño,Julian Ramírez-Bello,Isela Montúfar-Robles,Rosa Elda Barbosa-Cobos,Angélica V Ángulo-Ramírez,Guillermo Valencia-Pacheco\",\"doi\":\"10.1097/rhu.0000000000002121\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"INTRODUCTION\\r\\nInterferon regulatory factor 5 (IRF5) is one of the pivotal genes implicated in systemic lupus erythematosus (SLE) among diverse ethnic groups, including Europeans, Asians, Hispanics, and Africans. Notably, its significance appears particularly pronounced among Hispanic populations. Previous studies have identified several single-nucleotide variants within IRF5, such as rs2004640G/T, rs2070197T/C, and rs10954213G/A, as associated with susceptibility to SLE among patients from Mexico City. However, the population of Yucatan, located in the Southeast of Mexico and characterized by a greater Amerindian genetic component, remains largely unexplored in this regard.\\r\\n\\r\\nOBJECTIVES\\r\\nOur study aimed to replicate the observed association between IRF5 variants and susceptibility to SLE among patients from Central Mexico and Yucatan. Furthermore, we investigated the impact of IRF5 rs59110799G/T, a variant that has not been previously studied in SLE individuals.\\r\\n\\r\\nMETHOD\\r\\nOur study included 204 SLE patients and 160 controls from Central Mexico, as well as 184 SLE patients and 184 controls from Yucatan. All participants were females 18 years and older. We employed a TaqMan assay to detect the presence of the following single-nucleotide variants: rs2004640G/T, rs2070197T/C, rs10954213G/A, and rs59110799G/T. Furthermore, we utilized 2 distinct web tools and databases to predict the potential functional implications of IRF5 variants.\\r\\n\\r\\nRESULTS\\r\\nIn SLE patients from Central Mexico, several IRF5 alleles showed significant associations with the disease following adjustment by the Bonferroni test: the rs2070197C allele (odds ratio [OR], 2.08), the rs10954213A allele (OR, 1.59), and the rs59110799G allele (OR, 1.71). Conversely, among patients from Yucatan, the following alleles showed associations: rs2004640T (OR, 1.51), rs2070197C (OR, 1.62), rs10954213A (OR, 1.67), and rs59110799G (OR, 1.44).\\r\\n\\r\\nCONCLUSION\\r\\nOur findings highlight genetic variations between Mexican populations and emphasize the role of IRF5 as a risk factor in SLE patients from both Central Mexico and Yucatan.\",\"PeriodicalId\":14745,\"journal\":{\"name\":\"JCR: Journal of Clinical Rheumatology\",\"volume\":\"3 1\",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2024-09-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JCR: Journal of Clinical Rheumatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/rhu.0000000000002121\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JCR: Journal of Clinical Rheumatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/rhu.0000000000002121","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
IRF5 Variants Are Risk Factors for Systemic Lupus Erythematosus in 2 Mexican Populations.
INTRODUCTION
Interferon regulatory factor 5 (IRF5) is one of the pivotal genes implicated in systemic lupus erythematosus (SLE) among diverse ethnic groups, including Europeans, Asians, Hispanics, and Africans. Notably, its significance appears particularly pronounced among Hispanic populations. Previous studies have identified several single-nucleotide variants within IRF5, such as rs2004640G/T, rs2070197T/C, and rs10954213G/A, as associated with susceptibility to SLE among patients from Mexico City. However, the population of Yucatan, located in the Southeast of Mexico and characterized by a greater Amerindian genetic component, remains largely unexplored in this regard.
OBJECTIVES
Our study aimed to replicate the observed association between IRF5 variants and susceptibility to SLE among patients from Central Mexico and Yucatan. Furthermore, we investigated the impact of IRF5 rs59110799G/T, a variant that has not been previously studied in SLE individuals.
METHOD
Our study included 204 SLE patients and 160 controls from Central Mexico, as well as 184 SLE patients and 184 controls from Yucatan. All participants were females 18 years and older. We employed a TaqMan assay to detect the presence of the following single-nucleotide variants: rs2004640G/T, rs2070197T/C, rs10954213G/A, and rs59110799G/T. Furthermore, we utilized 2 distinct web tools and databases to predict the potential functional implications of IRF5 variants.
RESULTS
In SLE patients from Central Mexico, several IRF5 alleles showed significant associations with the disease following adjustment by the Bonferroni test: the rs2070197C allele (odds ratio [OR], 2.08), the rs10954213A allele (OR, 1.59), and the rs59110799G allele (OR, 1.71). Conversely, among patients from Yucatan, the following alleles showed associations: rs2004640T (OR, 1.51), rs2070197C (OR, 1.62), rs10954213A (OR, 1.67), and rs59110799G (OR, 1.44).
CONCLUSION
Our findings highlight genetic variations between Mexican populations and emphasize the role of IRF5 as a risk factor in SLE patients from both Central Mexico and Yucatan.
期刊介绍:
JCR: Journal of Clinical Rheumatology the peer-reviewed, bimonthly journal that rheumatologists asked for. Each issue contains practical information on patient care in a clinically oriented, easy-to-read format. Our commitment is to timely, relevant coverage of the topics and issues shaping current practice. We pack each issue with original articles, case reports, reviews, brief reports, expert commentary, letters to the editor, and more. This is where you''ll find the answers to tough patient management issues as well as the latest information about technological advances affecting your practice.