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Variants in the interferon regulatory factor 5 gene confer genetic risk for systemic lupus erythematosus in a Han Chinese population.

Wenqi Xu·Jiayao Liu·Peilin Yu·Xiaofei Shi·Rongzeng Liu
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Abstract

BACKGROUND: Interferon regulatory factor 5 (IRF5), integral to interferon signaling pathways, has been identified as a susceptibility locus for systemic lupus erythematosus (SLE). Nevertheless, the relationship between IRF5 variants and SLE risk within the Han Chinese demographic remains inadequately characterized. MATERIALS AND METHODS: Genotyping of two functional single nucleotide variants (SNVs) in IRF5 was conducted in 167 individuals with SLE and 246 healthy controls utilizing sequence-specific primer polymerase chain reaction (PCR-SSP). Chi-square and Fisher's exact tests were employed to assess associations. RESULTS: The rs10954213 variant demonstrated a significant association with SLE susceptibility under the recessive model (GG vs. AG+AA, OR = 2.20, 95% CI: 1.30-3.75, p&#x2009;=&#x2009;0.003, adjusted p [pc]&#x2009;=&#x2009;0.030) and homozygous model (GG vs. AA, OR = 2.43, 95% CI: 1.36-4.42, p&#x2009;=&#x2009;0.003, pc = 0.032). Similarly, the rs2004640 variant was associated with an increased risk of SLE across allelic (T vs. G, OR = 1.66, 95% CI: 1.22-2.26, p&#x2009;=&#x2009;0.001, pc = 0.011), dominant (TG+TT vs. GG, OR = 1.77, 95% CI: 1.19-2.63, p&#x2009;=&#x2009;0.005, pc = 0.047), and homozygous models (TT vs. GG, OR = 3.72, 95% CI: 1.58-8.78, p&#x2009;=&#x2009;0.002, pc = 0.016). Haplotype analysis identified protective haplotype HT1 (A/G, OR = 0.54, 95% CI: 0.41-0.73, p&#x2009;<&#x2009;0.001) and risk haplotype HT4 (G/T, OR = 2.51, 95% CI: 1.42-4.42, p&#x2009;=&#x2009;0.001). CONCLUSIONS: These findings indicate that IRF5 gene variants substantially modulate susceptibility to SLE in the Han Chinese population. They hold potential as biomarkers for evaluating SLE risk and offer valuable perspectives into disease pathogenesis.

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AdultFemaleHumansMaleMiddle AgedAllelesCase-Control StudiesChinaGene FrequencyGenetic Predisposition to DiseaseGenotypeHaplotypesInterferon Regulatory FactorsLupus Erythematosus, SystemicPolymorphism, Single NucleotideEast Asian PeopleIRF5SLEhaplotypeinterferon signaling pathwaysingle nucleotide variantsJournal ArticleResearch Support, Non-U.S. Gov't

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Wenqi Xu, Jiayao Liu, Peilin Yu, Xiaofei Shi, Rongzeng Liu. 2026-01-30. Variants in the interferon regulatory factor 5 gene confer genetic risk for systemic lupus erythematosus in a Han Chinese population.. https://doi.org/10.1080/07853890.2026.2622737

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Adult subjectAlleles subjectCase-Control Studies subjectChina subjectEast Asian People subjectFemale subjectGene Frequency subjectGenetic Predisposition to Disease subjectGenotype subjectHaplotypes subjectHumans subjectJournal Article subjectJournal Article; Research Support, Non-U.S. Gov't resourceMale subjectMiddle Aged subjectPolymorphism, Single Nucleotide subject

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