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本文引用的文献

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HLA-B*40:01 Is Associated with Ankylosing Spondylitis in HLA-B27-positive Populations.HLA-B*40:01与HLA-B27阳性人群中的强直性脊柱炎相关。
J Rheumatol. 2016 Jun;43(6):1255-6. doi: 10.3899/jrheum.151096.
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Paradoxical articular manifestations in patients with inflammatory bowel diseases treated with infliximab.接受英夫利昔单抗治疗的炎症性肠病患者的反常关节表现。
Eur J Gastroenterol Hepatol. 2016 Aug;28(8):876-81. doi: 10.1097/MEG.0000000000000643.
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NLRP3 rs35829419 polymorphism is associated with increased susceptibility to multiple diseases in humans.NLRP3基因rs35829419多态性与人类对多种疾病易感性增加有关。
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Genetic Variations in Pattern Recognition Receptor Loci Are Associated with Anti-TNF Response in Patients with Rheumatoid Arthritis.模式识别受体基因座的遗传变异与类风湿关节炎患者的抗TNF反应相关。
PLoS One. 2015 Oct 6;10(10):e0139781. doi: 10.1371/journal.pone.0139781. eCollection 2015.
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Genetics of ankylosing spondylitis--insights into pathogenesis.强直性脊柱炎的遗传学——发病机制的研究进展。
Nat Rev Rheumatol. 2016 Feb;12(2):81-91. doi: 10.1038/nrrheum.2015.133. Epub 2015 Oct 6.
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NLRP3 gene polymorphisms in Iranian patients with recurrent aphthous stomatitis.伊朗复发性阿弗他口炎患者的NLRP3基因多态性
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The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.在一名成年发病的肿瘤坏死因子受体相关周期性综合征(TRAPS)患者中鉴定出的肿瘤坏死因子受体超家族成员1A(TNFRSF1A)基因新型S59P突变持续激活核因子κB(NF-κB)通路。
Arthritis Res Ther. 2015 Apr 3;17(1):93. doi: 10.1186/s13075-015-0604-7.
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HLA-B27.人类白细胞抗原 B27。
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Sulfasalazine for ankylosing spondylitis.柳氮磺胺吡啶用于治疗强直性脊柱炎。
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10
NLRP3 gene is associated with ulcerative colitis (UC), but not Crohn's disease (CD), in Chinese Han population.在中国汉族人群中,NLRP3基因与溃疡性结肠炎(UC)相关,但与克罗恩病(CD)无关。
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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.

DOI:10.1002/jcla.22138
PMID:28116820
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6817003/
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。