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Background/Objectives <p>This study aimed to analyze the allele frequencies and genotype distributions of key <i>FKBP4</i> single nucleotide polymorphisms (SNPs) (rs11833878, rs1981655, and rs41456246) in pediatric systemic lupus erythematosus (pSLE) patients versus healthy controls and to evaluate their association with glucocorticoid (GC) treatment efficacy.</p> Methods <p>Forty-five patients with pSLE and 45 age- and sex-matched healthy controls were recruited between October 2022 and June 2024. Genotyping was performed using the imLDR<sup>®</sup> kit. The patients received standard GC treatment. Clinical assessments (SLEDAI-2K, laboratory parameters, and GC dosage) were performed at baseline, 3, and 6 months.</p> Results <p>Genotypes at rs11833878 and rs41456246 were significantly correlated with clinical indicators. rs11833878 was associated with a significant difference in baseline platelet (PLT) count (<i>P</i> = 0.037) and PLT improvement at 3 months (<i>P</i> = 0.016). From baseline to 6 months, it correlated with SLEDAI-2K reduction (<i>P</i> = 0.019) and PLT change (<i>P</i> = 0.035). Between 3 and 6 months, it was associated with a 24-hour urinary protein reduction (<i>P</i> = 0.047). rs41456246 was associated with a significant difference in baseline white blood cell (WBC) count (<i>P</i> = 0.011) and GC dosage at 3 months (<i>P</i> = 0.029). From baseline to 6 months, it correlated with the magnitude of GC tapering (<i>P</i> = 0.021) and PLT improvement (<i>P</i> = 0.034). Between 3 and 6 months, it was associated with the extent of GC tapering (<i>P</i> = 0.011). No significant associations were found for rs1981655.</p> Conclusion <p><i>FKBP4</i> polymorphisms may modulate the therapeutic response in pSLE, potentially influencing GC receptor function. rs11833878 was linked to improvements in PLT, SLEDAI-2K score, and proteinuria, whereas rs41456246 was associated with WBC, GC dosage, and PLT recovery. Genotyping these loci may serve as a valuable reference for developing personalized treatment strategies.</p>

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Association of FKBP4 gene polymorphisms with glucocorticoid efficacy in pediatric systemic lupus erythematosus

  • 期刊论文

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  • 发表日期：

    2026年5月29日

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  • Xiao Wang,
  • Linna Zeng,
  • Ning Qu,
  • Bulbul Bahat,
  • Hongtao Zhu

摘要

Background/Objectives

This study aimed to analyze the allele frequencies and genotype distributions of key FKBP4 single nucleotide polymorphisms (SNPs) (rs11833878, rs1981655, and rs41456246) in pediatric systemic lupus erythematosus (pSLE) patients versus healthy controls and to evaluate their association with glucocorticoid (GC) treatment efficacy.

Methods

Forty-five patients with pSLE and 45 age- and sex-matched healthy controls were recruited between October 2022 and June 2024. Genotyping was performed using the imLDR® kit. The patients received standard GC treatment. Clinical assessments (SLEDAI-2K, laboratory parameters, and GC dosage) were performed at baseline, 3, and 6 months.

Results

Genotypes at rs11833878 and rs41456246 were significantly correlated with clinical indicators. rs11833878 was associated with a significant difference in baseline platelet (PLT) count (P = 0.037) and PLT improvement at 3 months (P = 0.016). From baseline to 6 months, it correlated with SLEDAI-2K reduction (P = 0.019) and PLT change (P = 0.035). Between 3 and 6 months, it was associated with a 24-hour urinary protein reduction (P = 0.047). rs41456246 was associated with a significant difference in baseline white blood cell (WBC) count (P = 0.011) and GC dosage at 3 months (P = 0.029). From baseline to 6 months, it correlated with the magnitude of GC tapering (P = 0.021) and PLT improvement (P = 0.034). Between 3 and 6 months, it was associated with the extent of GC tapering (P = 0.011). No significant associations were found for rs1981655.

Conclusion

FKBP4 polymorphisms may modulate the therapeutic response in pSLE, potentially influencing GC receptor function. rs11833878 was linked to improvements in PLT, SLEDAI-2K score, and proteinuria, whereas rs41456246 was associated with WBC, GC dosage, and PLT recovery. Genotyping these loci may serve as a valuable reference for developing personalized treatment strategies.