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NLRP3和TNFRSF1A基因多态性与强直性脊柱炎风险及依那西普治疗疗效的相关性

The association of NLRP3 and TNFRSF1A polymorphisms with risk of ankylosing spondylitis and treatment efficacy of etanercept.

作者信息

Zhao Shengchun, Chen Hongwei, Wu Guolin, Zhao Chen

机构信息

Second Department of Orthopaedics, Yiwu City Central Hospital, Yiwu, Zhejiang, China.

Department of Orthopaedics, Yiwu City Central Hospital, Yiwu, Zhejiang, China.

出版信息

J Clin Lab Anal. 2017 Nov;31(6). doi: 10.1002/jcla.22138. Epub 2017 Jan 23.

Abstract

BACKGROUND

To discover how NLRP3 and TNFRSF1A polymorphisms affect the efficacy of traditional medicine and etanercept for ankylosing spondylitis (AS) patients.

METHODS

Single nucleotide polymorphism (SNP) and haplotype analyses were conducted based on determined NLRP3 and TNFRSF1A among AS patients. We subsequently analyzed the relationship between relevant clinical indexes and polymorphisms of NLRP3 and TNFRSF1A.

RESULTS

The 4 SNP loci on NLRP3 and 3 SNP loci on TNFRSF1A showed significant linkage disequilibrium, respectively. The T allele of NLRP3 rs4612666 and the T allele of TFRSF1A rs4149570 are both associated with AS (P<.05). The T-A-C-T haplotype of NLRP3 as well as the G-C-C, T-C-C, T-C-T, and T-T-T haplotypes of TFRSF1A are associated with AS (P<.05). The morning stiffness time, BASDAI scoring, and ESR of patients receiving etanercept were significantly higher than those receiving traditional medicine. T allele of NLRP3 rs4612666 had a significantly greater negative impact on the ASAS20 improvement than C allele. Whereas the A allele of NLRP3 rs3806268 had a significantly greater positive impact on the ASAS20 improvement than G allele. There is no significant association between SNP and efficacy of traditional medicine in the treatment of AS.

CONCLUSION

NLRP3 and TFRSF1A (rs4149570) are associated with AS susceptibility. There is a significant association between NLRP3 polymorphisms and treatment of etanercept.

摘要

背景

探究NLRP3和TNFRSF1A基因多态性如何影响传统药物和依那西普对强直性脊柱炎(AS)患者的疗效。

方法

基于已确定的AS患者的NLRP3和TNFRSF1A进行单核苷酸多态性(SNP)和单倍型分析。随后分析相关临床指标与NLRP3和TNFRSF1A基因多态性之间的关系。

结果

NLRP3上的4个SNP位点和TNFRSF1A上的3个SNP位点分别显示出显著的连锁不平衡。NLRP3 rs4612666的T等位基因和TFRSF1A rs4149570的T等位基因均与AS相关(P<0.05)。NLRP3的T-A-C-T单倍型以及TNFRSF1A的G-C-C、T-C-C、T-C-T和T-T-T单倍型与AS相关(P<0.05)。接受依那西普治疗的患者的晨僵时间、BASDAI评分和血沉显著高于接受传统药物治疗的患者。NLRP3 rs4612666的T等位基因对ASAS20改善的负面影响显著大于C等位基因。而NLRP3 rs3806268的A等位基因对ASAS20改善的正面影响显著大于G等位基因。SNP与传统药物治疗AS的疗效之间无显著关联。

结论

NLRP3和TFRSF1A(rs4149570)与AS易感性相关。NLRP3基因多态性与依那西普治疗存在显著关联。

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