[1]安非梦,曹玉举,王建忠.中国北方汉族人群中MMPs基因多态性与非创伤性股骨头坏死遗传易感性的关联分析[J].中华老年骨科与康复电子杂志,2019,(02):68-74.[doi:10.3877/cma.j.issn.2096-0263.2019.02.002]
 An Feimeng,Cao Yuju,Wang Jianzhong.Association between genetic polymorphisms of MMPs and the risk of non-traumaticosteonecrosis of the femoral head in the Han population of northern China[J].Chin J Geriatr Orthop Rehabil(Electronic Edition),2019,(02):68-74.[doi:10.3877/cma.j.issn.2096-0263.2019.02.002]
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中国北方汉族人群中MMPs基因多态性与非创伤性股骨头坏死遗传易感性的关联分析()
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中华老年骨科与康复电子杂志[ISSN:1674-3911/CN:11-9292/R]

卷:
期数:
2019年02期
页码:
68-74
栏目:
基础研究
出版日期:
2019-04-05

文章信息/Info

Title:
Association between genetic polymorphisms of MMPs and the risk of non-traumaticosteonecrosis of the femoral head in the Han population of northern China
作者:
安非梦12曹玉举3王建忠2
010050 呼和浩特,内蒙古医科大学1;010030 呼和浩特,内蒙古医科大学第二附属医院创伤一科2;450000 郑州,郑州中医骨伤病医院科研科3
Author(s):
An Feimeng12 Cao Yuju3 Wang Jianzhong2
1Inner Mongolia Medical University, Hohhot 010050, China; 2Department of Trauma Orthopedics, the Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010030, China; 3Department of Scientific Research, Zhengzhou TCM Traumatology Hospital, Zhengzhou 450000, China
关键词:
股骨头坏死 多态性单核苷酸 金属蛋白酶 关联分析
Keywords:
Femur head necrosis Polymorphism single-nucleotide Matrix metalloproteinases Association study
DOI:
10.3877/cma.j.issn.2096-0263.2019.02.002
文献标志码:
A
摘要:
目的 筛查MMPs系统中可能与非创伤性骨坏死发病相关的单核苷酸多态性(SNP)位点,为骨坏死的早期诊断和预防提供遗传学依据。方法 在这项病例-对照研究中,设计非创伤性骨坏死病例组585例,对照组507例,分别提取外周血基因组DNA,应用MassARRAY分型技术对所选MMPs系统中9个基因上的42个SNP位点进行分型,并用卡方检验和SNPStats软件对SNP分型结果进行统计分析,评估所选位点与骨坏死发病的关联性。结果 在中国北方汉族人群中,MMP8基因上的rs11225394、MMP3基因上rs522616可能与增加骨坏死的发病风险相关,MMP3基因上的rs650108、MMP9基因上的rs2274755可能与降低骨坏死的发病风险相关。另外,我们在单倍体分析中还发现MMP9基因中rs3918249,rs2274755,rs3918254三个位点的“TGC”、“CTC”单体型较野生单体型携带者降低骨坏死发病风险更显著。结论 MMP3、MMP8、MMP9基因多态性与非创伤性骨坏死发病的遗传易感性相关。
Abstract:
Objective The aim of this study was to identify the associations between genes selected from MMPs/TIMPs system and the risk of NONFH, which can provide the genetic basis for the early diagnosis and prevention. Methods In the case-control study, we recruited 585 patients who were diagnosed with NONFH and 507 controls. Peripheral blood DNA was extracted, respectively. We genotyped 42 SNPs chosen from 9 genes of MMPs by Sequenom Mass ARRAY. The chi-square test and SNPStats analysis software were used to make statistical analysis and evaluate the association between SNPs and NONFH. Results TheMMP8 rs11225394 SNP, the MMP3 rs522616 SNP were associated with an increased risk of NONFH. The MMP3 rs650108 SNP, the MMP9 rs2274755 SNP were associated with a decreased risk of NONFH. In addition, the haplotype "TGC" and the haplotype "CTC" of MMP9 were found to be more likely to decrease the risk of the NONFH than the wild haplotype. Conclusion The genetic polymorphisms of MMP3, MMP8, MMP9 are related to the risk of non-traumaticosteonecrosis of femoral head in the Han population of northern China.

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金支持(81160228,81260284,81660378)
更新日期/Last Update: 2019-04-12