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基质金属蛋白酶-8单核苷酸多态性与中国汉族人群强直性脊柱炎相关。

MMP-8 single-nucleotide polymorphisms are related to ankylosing spondylitis in Chinese Han population.

作者信息

Meng Chenyang, Bai Rui, Zhao Zhenqun, Huang Guimei, Jin Tianbo, Feng Wei, Liu Wanlin

机构信息

Department of Graduate School, Inner Mongolia Medical University, Hohhot, Inner Mongolia, China Department of Pediatric Orthopedics, The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China Department of Administrative Affairs Office, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China School of Life Sciences, Northwest University, Xi'an, Shaanxi, China Department of Pelvic and Acetabular Surgery, The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.

出版信息

Medicine (Baltimore). 2018 Aug;97(35):e12136. doi: 10.1097/MD.0000000000012136.

Abstract

Ankylosing spondylitis (AS) is an extreme form of inflammatory arthritis which always leads to bony fusion of vertebral and chronic pain of back. A lot of genes including interleukin, matrix metalloproteinases (MMPs), and endoplasmic reticulum aminopeptidase were found associated with AS. MMP family members were involved in the autoimmune disease and orthopedic diseases such as rheumatoid arthritis and osteoarthritis, while few studies concentrated on the correlation between single-nucleotide polymorphisms (SNPs) in MMP and AS. In addition, there is no report on the relationship between MMP-8 and AS. To investigate the association between SNPs in MMP-8 and AS, we recruited 268 patients with AS and 654 healthy people to conduct a case-control study. Five SNPs including rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 of MMP-8 gene were genotyped. It was found rs3740938 of MMP-8 was associated with an increased risk of AS under the dominant model and additive model after adjustment for gender and age by performing logistic regression analysis (odds ratio [OR] = 1.49, 95% confidence interval [CI] = 1.02-2.18, P = .038; OR = 1.37, 95% CI = 1.01-1.87, P = .042, respectively). Moreover, haplotype "GGTCA" was associated with an increased risk of AS without adjustment for age and gender (OR = 1.75, 95% CI = 1.05-2.92, P = .032), while no positive result was found after adjustment for age and gender. Based on our results, our study indicates significant association between SNPs of MMP-8 and AS risk in a Chinese Han population and these results provide the first evidence that MMP-8 is correlated with AS.

摘要

强直性脊柱炎(AS)是一种严重的炎症性关节炎,常导致椎体骨融合和慢性背痛。许多基因,包括白细胞介素、基质金属蛋白酶(MMPs)和内质网氨肽酶,被发现与AS相关。MMP家族成员参与了自身免疫性疾病和骨科疾病,如类风湿性关节炎和骨关节炎,而很少有研究关注MMP中的单核苷酸多态性(SNP)与AS之间的相关性。此外,尚无关于MMP - 8与AS关系的报道。为了研究MMP - 8基因中的SNP与AS之间的关联,我们招募了268例AS患者和654名健康人进行病例对照研究。对MMP - 8基因的5个SNP,包括rs3740938、rs2012390、rs1940475、rs11225394和rs11225395进行基因分型。通过逻辑回归分析,在对性别和年龄进行调整后,发现MMP - 8的rs3740938在显性模型和加性模型下与AS风险增加相关(比值比[OR] = 1.49,95%置信区间[CI] = 1.02 - 2.18,P = 0.038;OR = 1.37,95% CI = 1.01 - 1.87,P = 0.042)。此外,单倍型“GGTCA”在未对年龄和性别进行调整时与AS风险增加相关(OR = 1.75,95% CI = 1.05 - 2.92,P = 0.032),而在对年龄和性别进行调整后未发现阳性结果。基于我们的研究结果,我们的研究表明在中国汉族人群中MMP - 8的SNP与AS风险之间存在显著关联,这些结果提供了MMP - 8与AS相关的首个证据。

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