Dataset Information

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

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.

SUBMITTER: Meng C

PROVIDER: S-EPMC6392754 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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

Meng Chenyang C Bai Rui R Zhao Zhenqun Z Huang Guimei G Jin Tianbo T Feng Wei W Liu Wanlin W

Medicine 20180801 35

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 po ...[more]

PMID: 30170451

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Project description:Etanercept was highly recommended for patients with ankylosing spondylitis (AS), as its efficacy has been confirmed in AS, while genetic polymorphisms, by affecting drug metabolism or drug receptor, lead to interindividual variability in drug disposition and efficacy. Therefore, this study aims to investigate whether ABCB1 gene polymorphisms can predict therapeutic response to etanercept in patients with AS.A total of 185 patients with AS in our hospital were recruited into our study from December 2012 to May 2015. The frequency distributions of genotype and allele of rs2032582, rs1128503, and rs1045642 were detected by polymerase chain reaction (PCR) and electrophoresis verification enzyme products method. AS patients received etanercept treatment for 12 weeks, followed by this would be evaluated by the bath AS disease activity index (BASDAI) score improvement and the assessment of spondyloArthritis international society 20/50/70 (ASAS20/50/70) score improvements to explore the relationship between genotype of ABCB1 gene polymorphisms and therapeutic response to etanercept in patients with AS.After 12 weeks, the BASDAI score mean improvement value of rs2032582 A/A genotype was 2.87?±?0.52. The ratios of patients with rs2032582 A/A genotype reaching the BASDAI50 and ASAS20 evaluation criteria were 64.29% and 92.86%, respectively. The results indicated that efficacy of etanercept was promoted in rs2032582 A/A genotype. The BASDAI score mean improvement value of rs1128503 C/C genotype was 2.79?±?0.54 after 12 weeks. The ratios of patients with rs1128503 C/C genotype reaching the BASDAI50 and ASAS20 evaluation criteria were 66.67% and 93.94%, respectively. The results indicated that efficacy of etanercept was promoted in rs1128503 C/C genotype. However, no significant associations were observed between rs1045642 and therapeutic response to etanercept in AS patients.ABCB1 gene rs2032582 and rs1128503 polymorphisms may be associated with the efficacy of etanercept in AS patients. ABCB1 gene polymorphisms can act as biological indicators of etanercept efficacy.

Project description:BACKGROUND: The human leukocyte antigen (HLA)-B27 gene is considered to be a major gene associated with predisposition to ankylosing spondylitis (AS); however, studies have demonstrated that non-HLA-B27 genes also contribute substantially to the susceptibility to AS. Two single nucleotide polymorphisms (SNPs), rs1004819 and rs10889677, of the interleukin-23 receptor (IL-23R) gene have been shown to be associated with AS susceptibility in European populations. However, ethnicity factors contribute to population splitting and genetic variation, and ethnic-specific genetic association studies are needed to validate these associations in patients from different ethnic backgrounds. This study therefore aimed to replicate the associations between these two SNPs and AS susceptibility in a Chinese Han population. METHODS: A total of 195 AS patients and 203 normal controls were recruited in this study. Two IL-23R gene SNPs, rs1004819 and rs10889677 were selected. Genotyping was performed in all subjects using the TaqMan probe method. Genotype and allele frequencies were compared between AS patients and normal controls by ?2 tests. RESULTS: There were no significant differences in either the genotype frequencies (TT 36.4%, TC 48.7% and CC 14.9% in AS patients; TT 35.0%, TC 50.0% and CC 15.0% in normal controls) or allele frequencies (T 60.8% and C 39.2% in AS patients; T 60.0% and C 40.0% in normal controls) of rs1004819 between AS patients and normal controls (P?>?0.05). In addition, both the genotype frequencies (AA 51.3%, AC 43.1% and CC 5.6% in AS patients; AA 57.6%, AC 35.5% and CC 6.9% in normal controls) and allele frequencies (A 72.8% and C 27.2% in AS patients; A 75.4% and C 24.6% in normal controls) of rs10889677 were also comparable between AS patients and normal controls (P?>?0.05). CONCLUSIONS: This study found no evidence for an association between either of the two previously identified AS-susceptibility IL-23R SNPs (rs1004819 and rs10889677) and onset of AS, indicating a possible difference in pathogenesis of AS between Chinese and European patients.

Dataset Information

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

Publications

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

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