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MATN3基因多态性与中国汉族人群骨关节炎的相关性:一项基于社区的病例对照研究。

MATN3 gene polymorphism is associated with osteoarthritis in Chinese Han population: a community-based case-control study.

作者信息

Gu Jiaao, Rong Jiesheng, Guan Fulin, Jiang Liying, Tao Shuqing, Guan Guofa, Tao Tianzun

机构信息

Department of the 2nd Affiliated Hospital of Harbin Medical University, Harbin Medical University, Heilongjiang, Harbin 150086, China.

出版信息

ScientificWorldJournal. 2012;2012:656084. doi: 10.1100/2012/656084. Epub 2012 Aug 22.

DOI:10.1100/2012/656084
PMID:22973175
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3432353/
Abstract

BACKGROUND

The matrilin, especially matrilin-3 (MATN3), are reported to play important roles in the pathophysiology of osteoarthritis (OA). To explore the relationship between MATN3 SNP6 (rs8176070) and primary OA, we conducted a community-based case-control study.

METHODS

A total of 732 community residents aged 40-84 years participated in the community-based study in Northeast China. After taking physical and radiographic examinations, 420 of the residents were diagnosed OA (216 women and 204 men). The other 312 individuals without any symptoms of osteoarthritis or signs in the radiographs (156 women and 156 men) were considered as healthy controls. After obtaining the DNA of case and control groups, genotypes of the MATN3 SNP6 were determined by polymerase chain reaction followed by restriction enzyme digestion. The numbers of patients with different OA subtypes were also calculated.

RESULTS

The distribution of genotypes and alleles of the MATN3 SNP6 between OA patients and controls was different significantly. The BB carrier tends to be associated with the increased osteoarthritis (P = 0.025, OR = 1.724, 95% CI = 1.071-2.77), especially the knee osteoarthritis (P = 0.021, OR = 2.402, 95% CI = 1.141-5.060) and lumber osteoarthritis (P = 0.020, OR = 1.880, 95% CI = 1.103-3.204). Bb carrier increased hand osteoarthritis risk (P = 0.002, OR = 5.380, 95% CI = 1.828-15.835). The B allele might have an effect on the increased knee osteoarthritis (P = 0.000, OR = 3.143, 95% CI = 2.283-4.328).

CONCLUSION

These findings suggest that the MATN3 gene polymorphism might be associated with osteoarthritis in the Chinese Han population.

摘要

背景

据报道,基质蛋白,尤其是基质蛋白-3(MATN3),在骨关节炎(OA)的病理生理学中发挥重要作用。为了探讨MATN3 SNP6(rs8176070)与原发性OA之间的关系,我们进行了一项基于社区的病例对照研究。

方法

共有732名年龄在40 - 84岁的社区居民参与了中国东北地区的社区研究。在进行身体检查和影像学检查后,420名居民被诊断为OA(216名女性和204名男性)。另外312名无任何骨关节炎症状或影像学表现的个体(156名女性和156名男性)被视为健康对照。在获取病例组和对照组的DNA后,通过聚合酶链反应随后进行限制性酶切来确定MATN3 SNP6的基因型。还计算了不同OA亚型的患者数量。

结果

OA患者和对照组之间MATN3 SNP6的基因型和等位基因分布存在显著差异。BB携带者往往与骨关节炎增加相关(P = 0.025,OR = 1.724,95%CI = 1.071 - 2.77),尤其是膝关节骨关节炎(P = 0.021,OR = 2.402,95%CI = 1.141 - 5.060)和腰椎骨关节炎(P = 0.020,OR = 1.880,95%CI = 1.103 - 3.204)。Bb携带者增加了手部骨关节炎风险(P = 0.002,OR = 5.380,95%CI = 1.828 - 15.835)。B等位基因可能对膝关节骨关节炎增加有影响(P = 0.000,OR = 3.143,95%CI = 2.283 - 4.328)。

结论

这些发现表明MATN3基因多态性可能与中国汉族人群的骨关节炎相关。

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本文引用的文献

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Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.全基因组关联扫描鉴定出一种参与膝关节骨关节炎风险的前列腺素内过氧化物合酶2变体。
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MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis.MATN3(基质金属蛋白酶3)序列变异(pT303M)是手部第一掌腕关节骨关节炎的一个风险因素,但不是膝关节骨关节炎的风险因素。
Ann Rheum Dis. 2007 Feb;66(2):279-80. doi: 10.1136/ard.2006.058263.
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The shunt from the cyclooxygenase to lipoxygenase pathway in human osteoarthritic subchondral osteoblasts is linked with a variable expression of the 5-lipoxygenase-activating protein.人类骨关节炎软骨下成骨细胞中从环氧化酶途径到脂氧合酶途径的分流与5-脂氧合酶激活蛋白的可变表达有关。
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Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis.基质金属蛋白酶-3基因的功能敲除导致软骨细胞过早成熟为肥大细胞,并增加骨矿物质密度和骨关节炎。
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