单核苷酸多态性内质网氨肽酶1（ERAP 1）基因在印度尼西亚成年强直性脊柱炎患者中的作用。
The roles of Single Nucleotide Polymorphism (SNP) Endoplasmic Reticulum Aminopeptidase 1 (ERAP 1) gene in axial spondyloarthritis Indonesian adults.
作者信息
Rahmawati Lita Diah, Soeroso Joewono
机构信息
Doctoral Program of Medical Science, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Department of Internal Medicine, Faculty of Medicine, Universitas Airlangga - Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
出版信息
Ann Med Surg (Lond). 2022 Apr 28;77:103675. doi: 10.1016/j.amsu.2022.103675. eCollection 2022 May.
BACKGROUND
Axial Spondyloarthritis (AxSpA) is chronic inflammatory arthritis involving the axial joint whose pathogenesis is related to the SNP ERAP1 gene, HLA B27, and cytokine proinflammatory (IL-17A and IL-23).
OBJECTIVE
Analyzed the role of SNP gene ERAP1 on disease activity and proinflammatory cytokines.
METHODS
This study comprised of two phases including a cross-sectional study and an in-vitro experiment in post-test with a control-group design. Participants underwent a PCR investigation searching for HLA-B27. Disease activities were measured by Ankylosing Spondylitis Disease Activity Score-Erythrocyte Sedimentation Rate (ASDAS-ESR) and modified Stokes Ankylosing Spondylitis Spinal Score (mSASSS). Subjects with HLA-B27 positive underwent PCR ERAP1 gene rs27434, genome-sequencing, and analysis. ELISA sandwich method was used to measure ERAP-1, IL-17, and IL-23 levels with lipopolysaccharide and IFN-γ induction. Analysis using independent -test, Mann Whitney, and Pearson correlation test with < 0.05.
RESULTS
The average ASDAS-ESR was 3.33 ± 0.89 and the average mSASSS was 26.53 ± 9.90. In HLA B27 positive group, SNP ERAP1 gene rs 27434 in which alleles A changed to G and A/G with genotypes AA to AG/GG was observed. SNPs of the ERAP1 gene had a correlation on mSASSS ( = 0.553; < 0.05) and no correlation on ASDAS-ESR ( = 0.232; = 0.235). There were significant differences observed in the SNP ERAP1 gene on ERAP1 and IL-17A levels in subjects with lipopolysaccharide and IFN-γ induction ( = 0.05) but no significant difference in IL-23 levels ( > 0.05).
CONCLUSION
The SNP ERAP1 gene affects mSASSS value, ERAP1 levels, and IL-17A levels whereas ASDAS-ESR value and IL-23 level were not associated.
背景
轴性脊柱关节炎（AxSpA）是一种累及轴关节的慢性炎症性关节炎，其发病机制与单核苷酸多态性（SNP）ERAP1基因、HLA - B27以及促炎细胞因子（IL - 17A和IL - 23）有关。
目的
分析SNP基因ERAP1在疾病活动度和促炎细胞因子中的作用。
方法
本研究包括两个阶段，即横断面研究和采用对照组设计的体外实验。参与者接受了用于检测HLA - B27的聚合酶链反应（PCR）检测。通过强直性脊柱炎疾病活动度评分 - 红细胞沉降率（ASDAS - ESR）和改良斯托克斯强直性脊柱炎脊柱评分（mSASSS）来衡量疾病活动度。HLA - B27阳性的受试者接受了PCR ERAP1基因rs27434检测、基因组测序及分析。采用酶联免疫吸附测定（ELISA）夹心方法，在脂多糖和干扰素 - γ诱导下测量ERAP - 1、IL - 17和IL - 23水平。使用独立样本t检验、曼 - 惠特尼检验和皮尔逊相关检验进行分析，P < 0.05。
结果
ASDAS - ESR的平均值为3.33 ± 0.89，mSASSS的平均值为26.53 ± 9.90。在HLA B27阳性组中，观察到ERAP1基因SNP rs27434中，等位基因A转变为G，基因型从AA变为AG / GG。ERAP1基因的单核苷酸多态性与mSASSS相关（r = 0.553；P < 0.05），与ASDAS - ESR无相关性（r = 0.232；P = 0.235）。在脂多糖和干扰素 - γ诱导的受试者中，ERAP1基因的SNP在ERAP1和IL - 17A水平上存在显著差异（P = 0.05），但在IL - 23水平上无显著差异（P > 0.05）。
结论
SNP ERAP1基因影响mSASSS值、ERAP1水平和IL - 17A水平，而与ASDAS - ESR值和IL - 23水平无关。
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