Association of MMP-3 (-1612 5A/6A) polymorphism with knee osteoarthritis in Thai population
Association of MMP-3 (-1612 5A/6A) polymorphism with knee osteoarthritis in Thai population
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DOI：
10.1007/s00296-012-2371-y
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发表时间：
2013-02-01
影响因子：
4
通讯作者：
Parvizi, Javad
中科院分区：
文献类型：
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作者：
Honsawek, Sittisak;Malila, Somkiat;Parvizi, Javad
骨关节炎（OA）是一种退行性关节疾病，导致关节软骨破坏、骨赘形成和软骨下骨硬化。近年来，许多遗传因素已被确定并涉及引起骨关节炎。其中一个遗传缺陷是基质金属蛋白酶3 （MMP-3）启动子区域-1612位置的单核苷酸多态性，已知导致三种可能的基因型，5A/5A， 6A/6A和5A/6A。本研究的目的是探讨泰国人群中MMP-3 -1612 5A/6A基因多态性与膝关节骨关节炎的关系。研究了200名参与者（100名膝关节骨性关节炎患者和100名健康对照）MMP-3 -1612 5A/6A多态性的基因型分布和等位基因频率。采用聚合酶链反应-限制性片段长度多态性进行基因分型。两组间基因型分布差异无统计学意义（P < 0.05）。OA患者中5A等位基因频率为15.5%，6A等位基因频率为84.5%，而对照组为10- 90%。因此，本研究表明MMP-3基因启动子的-1612 5A/6A多态性基因型在泰国人群骨关节炎的发展中不起作用。
Osteoarthritis (OA) is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in causing osteoarthritis. One such genetic defect is a single nucleotide polymorphism at position -1612 of matrix metalloproteinase-3 (MMP-3) promoter region, known to lead to three possible genotypes, 5A/5A, 6A/6A, and 5A/6A. The purpose of this study was to investigate the association of MMP-3 -1612 5A/6A gene polymorphism with knee osteoarthritis in Thai population. Genotype distributions and allelic frequencies of MMP-3 -1612 5A/6A polymorphism were investigated in 200 participants (100 patients with knee osteoarthritis and 100 healthy controls). Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. There was no statistically significant difference between the groups with respect to genotype distribution (P > 0.05). The 5A allele frequency was indicated as 15.5 %, and 6A allele was as 84.5 % in OA patients, whereas it was 10-90 % in the control group. Accordingly, the present study has indicated that the -1612 5A/6A polymorphism genotypes of MMP-3 gene promoter do not play a role in the development of osteoarthritis in the Thai population.