IRF5 变异是两个墨西哥人群患系统性红斑狼疮的风险因素。

IF 2.4 4区 医学 Q2 RHEUMATOLOGY JCR: Journal of Clinical Rheumatology Pub Date : 2024-09-14 DOI:10.1097/rhu.0000000000002121
Isaac A López-Briceño,Julian Ramírez-Bello,Isela Montúfar-Robles,Rosa Elda Barbosa-Cobos,Angélica V Ángulo-Ramírez,Guillermo Valencia-Pacheco
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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. 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引用次数: 0

摘要

简介干扰素调节因子 5(IRF5)是与欧洲人、亚洲人、西班牙裔人和非洲人等不同种族群体中的系统性红斑狼疮(SLE)有关的关键基因之一。值得注意的是,它在西班牙裔人群中的重要性似乎尤为明显。先前的研究发现,IRF5 中的几个单核苷酸变异,如 rs2004640G/T、rs2070197T/C 和 rs10954213G/A 与墨西哥城患者的系统性红斑狼疮易感性有关。我们的研究旨在复制在墨西哥中部和尤卡坦患者中观察到的 IRF5 变体与系统性红斑狼疮易感性之间的关联。此外,我们还调查了IRF5 rs59110799G/T的影响,该变异以前从未在系统性红斑狼疮患者中进行过研究。方法我们的研究包括来自墨西哥中部的204名系统性红斑狼疮患者和160名对照者,以及来自尤卡坦半岛的184名系统性红斑狼疮患者和184名对照者。所有参与者均为 18 岁及以上的女性。我们采用 TaqMan 分析法检测以下单核苷酸变异的存在:rs2004640G/T、rs2070197T/C、rs10954213G/A 和 rs59110799G/T。结果在墨西哥中部的系统性红斑狼疮患者中,经 Bonferroni 检验调整后,几个 IRF5 等位基因显示与疾病有显著关联:rs2070197C 等位基因(比值比 [OR],2.08)、rs10954213A 等位基因(OR,1.59)和 rs59110799G 等位基因(OR,1.71)。相反,在尤卡坦患者中,以下等位基因显示出相关性:rs2004640T(OR,1.51)、rs2070197C(OR,1.62)、rs10954213A(OR,1.67)和 rs59110799G(OR,1.44)。
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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.
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来源期刊
CiteScore
3.50
自引率
2.90%
发文量
228
审稿时长
4-8 weeks
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.
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