Variation of Matrix Metalloproteinase 1 and 3 Haplotypes and Their Serum Levels in Patients with Rheumatoid Arthritis and Osteoarthritis
Variation of Matrix Metalloproteinase 1 and 3 Haplotypes and Their Serum Levels in Patients with Rheumatoid Arthritis and Osteoarthritis
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DOI：
10.1089/gtmb.2011.0003
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发表时间：
2012-01-01
影响因子：
1.4
通讯作者：
Abou El-Saoud, Amany M.
中科院分区：
文献类型：
--
作者：
Abd-Allah, Somia H.;Shalaby, Sally M.;Abou El-Saoud, Amany M.
基质金属蛋白酶1和3 （MMP1和MMP3）被认为在类风湿关节炎（RA）和骨关节炎（OA）疾病的破坏性关节变化中起重要作用。本研究的目的是分析MMP1和MMP3基因启动子区功能多态性是否与RA和OA相关。采用聚合酶链反应限制性片段长度多态性方法对100例RA患者、100例OA患者和100例对照患者的MMP1 （-1607 1G/2G）和MMP3 （-1171 5A/6A）多态性进行筛选。采用酶联免疫吸附法测定血清MMP1和MMP3水平。结果显示OA患者和对照组之间MMP1多态性的等位基因分布有显著差异，但RA患者和对照组之间无显著差异。对于MMP3多态性，6A/6A基因型在RA和OA患者中的频率明显高于对照组。携带异常等位基因的2G-6A单倍型在RA和OA患者中的出现频率高于对照组（分别为28%、30%和8%）。各组患者血清MMP1和MMP3水平无显著差异。总之，MMP1和MMP3单倍型可能是埃及人群中RA和OA的遗传决定因素。结果表明，MMP多态性基因型在预测关节损伤方面可能比测定血清MMP1和MMP3浓度更有用。此外，MMP1和MMP3多态性可能预测这些疾病的活动和严重程度。
The matrix metalloproteinases 1 and 3 (MMP1 and MMP3) are thought to be important in destructive joint changes seen in rheumatoid arthritis (RA) and osteoarthritis (OA) diseases. The aim of this study was to analyze whether functional polymorphisms in the promoter region of the MMP1 and MMP3 genes were associated with RA and OA. The MMP1 (-1607 1G/2G) and MMP3 (-1171 5A/6A) polymorphisms were screened by polymerase chain reaction restriction fragment length polymorphism in 100 patients with (RA), 100 patients with (OA), and 100 controls. Serum MMP1 and MMP3 levels were measured by enzyme-linked immunosorbent assay. The results reported a significant difference between patients with OA and controls regarding allele distributions of MMP1 polymorphism, but not between patients with RA and controls. For MMP3 polymorphism, the 6A/6A genotype was significantly more frequent in patients with RA and OA than in controls. The haplotype 2G-6A, which carries the abnormal alleles, showed higher frequencies in the patients with RA and OA than in controls (28%, 30% and 8%, respectively). There were no significant differences in serum MMP1 and MMP3 levels between all studied groups. In conclusion, the MMP1 and MMP3 haplotypes may represent genetic determinants for RA and OA in the Egyptian population. The results suggest that MMP polymorphism genotypes may be more useful in predicting joint damage than measurement of serum concentrations of MMP1 and MMP3. Moreover, MMP1 and MMP3 polymorphisms may predict the activity and severity of these diseases.