Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population
Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population
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基质金属蛋白酶1、3和12多态性与中国汉族人群风湿性心脏病的关联
DOI：
10.1186/s12881-018-0538-4
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发表时间：
2018-02
影响因子：
--
通讯作者：
Meng Zhaohui
中科院分区：
文献类型：
--
作者：
Hu Wei;Ye Yujia;Yin Yirui;Sang Peng;Li Linhua;Wang Jing;Wan Wen;Li Rui;Xie Yuehui;Meng Zhaohui
风湿性心脏病（Rheumatous heart disease，RHD）是由急性风湿热（acute rheumatoid fever，ARF）引起的自身免疫性疾病.基质金属蛋白酶（MMPs）在免疫应答的调节中起重要作用。本研究的目的是评估MMP 1，3，和12启动子多态性与RHD在中国南方汉族人群，因为3个基因定位在同一染色体上，并有一个联合effect.MethodsDNA样本获得90例成人RHD患者和90名对照组。采用直接测序法对MMP 1（rs 1799750）、MMP 3（rs3025058）和MMP 12（rs 2276109）的多态性进行基因分型。这些多态性的基因型和等位基因频率的差异进行了比较病例组和对照组之间使用无条件Logistic回归模型和卡方test.ResultsThe 2G/2G基因型的rs 1799750在MMP 1与RHD的风险显着升高相比，1G/1G基因型（OR = 3.227; 95%CI：1.118-9.31;P= 0.03）。RHD组2G等位基因频率高于对照组（69.4%对58.9%; RHD组MMP 3基因rs3025058和MMP 12基因rs 2276109的基因型和等位基因频率与对照组相比无显著性差异结论MMP 1基因rs 1799750可能是中国南方汉族人群RHD的一个危险因素，携带2G/2G基因型的个体可能更易患RHD。相反，MMP 3中rs3025058和MMP 12中rs 2276109可能与该人群发生RHD的风险无关。需要对更大样本和其他种族人群进行进一步研究，以证实这些发现。
BackgroundRheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this study was to evaluate the association ofMMP1,3, and12promoter polymorphisms with RHD in a Han population in Southern China since the 3 genes are localized on the same chromosome and have a combined effect.MethodsDNA samples were obtained from 90 adult patients with RHD and 90 control subjects. Polymorphisms inMMP1(rs1799750),MMP3(rs3025058), andMMP12(rs2276109) were genotyped by direct sequencing. Differences in genotype and allele frequencies of these polymorphisms were compared between the cases and the controls using Unconditional logistic regression models and Chi-squared test.ResultsThe 2G/2G genotype of rs1799750 inMMP1was associated with a significantly higher risk of RHD when compared with the 1G/1G genotype (OR = 3.227; 95% CI:1.118–9.31;p= 0.03). The frequency of allele 2G was higher in patients with RHD compared to the controls (69.4% vs. 58.9%;p= 0.048) No significant differences in genotype and allele frequencies of rs3025058 inMMP3and rs2276109 inMMP12were found between the patients with RHD and the controls (p> 0.05).ConclusionsOur results suggest that rs1799750 inMMP1might be a risk factor for RHD in a Han population in Southern China, and individuals carrying the 2G/2G genotype are likely more susceptible to RHD. In contrast, rs3025058 inMMP3and rs2276109 inMMP12might not contribute to the risk of developing RHD in this population. Further studies with larger samples and other ethnic populations are required to confirm these findings.
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DOI：
10.2967/jnumed.114.152355
发表时间：
2015-06
期刊：
Journal of nuclear medicine : official publication, Society of Nuclear Medicine
影响因子：
--
作者：
Jung JJ;Razavian M;Challa AA;Nie L;Golestani R;Zhang J;Ye Y;Russell KS;Robinson SP;Heistad DD;Sadeghi MM
通讯作者：
Sadeghi MM
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DOI：
10.4103/1793-5482.145338
发表时间：
2016-04
期刊：
Asian journal of neurosurgery
影响因子：
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作者：
Kawal P;Chandra A;Rajkumar;Dhole TN;Ojha B
通讯作者：
Ojha B
DOI：
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发表时间：
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期刊：
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影响因子：
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作者：
You-Qiang Song;Daniel Wh;Ho;J. Karppinen;Patrick Y P Kao;B. Fan;K. Luk;S. Yip;J. C. Leong-
通讯作者：
You-Qiang Song;Daniel Wh;Ho;J. Karppinen;Patrick Y P Kao;B. Fan;K. Luk;S. Yip;J. C. Leong-
DOI：
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发表时间：
2012-10
期刊：
Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences
影响因子：
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作者：
M. Motovali-bashi;Z. Hojati;S. Hajihoseiny;S. Hemmati
通讯作者：
M. Motovali-bashi;Z. Hojati;S. Hajihoseiny;S. Hemmati
DOI：
--
发表时间：
2015-05
期刊：
Morbidity and Mortality Weekly Report
影响因子：
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作者：
A. Beaudoin;Laura Edison;C. Introcaso;L. Goh;J. Marrone;A. Mejia;C. V. Van Beneden
通讯作者：
A. Beaudoin;Laura Edison;C. Introcaso;L. Goh;J. Marrone;A. Mejia;C. V. Van Beneden