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      Association of MMP-2 gene haplotypes with thoracic aortic dissection in chinese han population

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          Abstract

          Background

          Thoracic aortic dissection (TAD) is the most common life-threatening disorder, and MMP-2 is involved in TAD pathogenesis. Our purpose is to systematically evaluate the association of the MMP-2 gene with TAD risk in Chinese Han population.

          Methods

          In our case–control study, we recruited 755 unrelated participants: 315 case participants with TAD and 440 controls. Twenty-two tag SNPs were selected from MMP-2 gene and were genotyped. Genotype data were analyzed by logistic regression.

          Results

          Although we did not find any significant association for MMP-2 SNPs using single-marker analysis, we identified many windows with haplotype frequencies significantly different between case participants and control participants using a variable-sized sliding-window strategy. In particular, the most significant association was shown by a 2-SNP window consisting of rs2241145 and rs9928731 (omnibus test: asymptotic P asym = 7.48 × 10 −5 and empirical P emp = 0.001867). There were two protective haplotypes: CT (P asym = 0.00303; odds ratio [OR], 0.403) and GC (P asym = 0.000976; OR, 0.448).

          Conclusions

          MMP-2 haplotypes are associated with genetic susceptibility to thoracic aortic dissection in Chinese Han population.

          Electronic supplementary material

          The online version of this article (doi:10.1186/s12872-016-0188-4) contains supplementary material, which is available to authorized users.

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          Most cited references31

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          Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.

          Christopher Carlson, Michael A Eberle, Mark J. Rieder … (2004)
          Common genetic polymorphisms may explain a portion of the heritable risk for common diseases. Within candidate genes, the number of common polymorphisms is finite, but direct assay of all existing common polymorphism is inefficient, because genotypes at many of these sites are strongly correlated. Thus, it is not necessary to assay all common variants if the patterns of allelic association between common variants can be described. We have developed an algorithm to select the maximally informative set of common single-nucleotide polymorphisms (tagSNPs) to assay in candidate-gene association studies, such that all known common polymorphisms either are directly assayed or exceed a threshold level of association with a tagSNP. The algorithm is based on the r(2) linkage disequilibrium (LD) statistic, because r(2) is directly related to statistical power to detect disease associations with unassayed sites. We show that, at a relatively stringent r(2) threshold (r2>0.8), the LD-selected tagSNPs resolve >80% of all haplotypes across a set of 100 candidate genes, regardless of recombination, and tag specific haplotypes and clades of related haplotypes in nonrecombinant regions. Thus, if the patterns of common variation are described for a candidate gene, analysis of the tagSNP set can comprehensively interrogate for main effects from common functional variation. We demonstrate that, although common variation tends to be shared between populations, tagSNPs should be selected separately for populations with different ancestries.
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            Thoracic and abdominal aortic aneurysms.

            Eric Isselbacher (2005)
            Article 0 comments Cited 197 times – based on 0 reviews     Review now
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              Neutrophil-derived matrix metalloproteinase 9 triggers acute aortic dissection.

              Shingo Hori, Ryoko Shimizu-Hirota, T. Kurihara … (2012)
              Acute aortic dissection (AAD) is a life-threatening vascular disease without effective pharmaceutical therapy. Matrix metalloproteinases (MMPs) are implicated in the development of chronic vascular diseases including aneurysm, but the key effectors and mechanism of action remain unknown. To define further the role of MMPs in AAD, we screened circulating MMPs in AAD patients, and then generated a novel mouse model for AAD to characterize the mechanism of action. MMP9 and angiotensin II were elevated significantly in blood samples from AAD patients than in those from the patients with nonruptured chronic aortic aneurysm or healthy volunteers. Based on the findings, we established a novel AAD model by infusing angiotensin II to immature mice that had been received a lysyl oxidase inhibitor, β-aminopropionitrile monofumarate. AAD was developed successfully in the thoracic aorta by angiotensin II administration to β-aminopropionitrile monofumarate-treated wild-type mice, with an incidence of 20%, 80%, and 100% after 6, 12, and 24 hours, respectively. Neutrophil infiltrations were observed in the intima of the thoracic aorta, and the overexpression of MMP9 in the aorta was demonstrated by reverse transcription polymerase chain reaction, gelatin zymography, and immunohistochemistry. The incidence of AAD was reduced significantly by 40% following the administration of an MMP inhibitor and was almost blocked completely in MMP(-/-) mice without any influence on neutrophil infiltration. Neutrophil depletion by injection of anti-granulocyte-differentiation antigen-1 (anti-Gr-1) antibody also significantly decreased the incidence of AAD. These data suggest that AAD is initiated by neutrophils that have infiltrated the aortic intima and released MMP9 in response to angiotensin II.
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                Author and article information

                Contributors
                Hongjia Zhang: 86-10-64456216 , anzhenzhj@163.com
                Journal
                Journal ID (nlm-ta): BMC Cardiovasc Disord
                Journal ID (iso-abbrev): BMC Cardiovasc Disord
                Title: BMC Cardiovascular Disorders
                Publisher: BioMed Central (London )
                ISSN (Electronic): 1471-2261
                Publication date (Electronic): 14 January 2016
                Publication date PMC-release: 14 January 2016
                Publication date Collection: 2016
                Volume: 16
                Electronic Location Identifier: 11
                Affiliations
                [ ]Department of Cardiovascular Surgery, Beijing An Zhen Hospital, Capital Medical University, Beijing, 100029 China
                [ ]Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, 100029 China
                Article
                Publisher ID: 188
                DOI: 10.1186/s12872-016-0188-4
                PMC ID: 4712614
                PubMed ID: 26762140
                SO-VID: 672d1e95-2857-4782-90b5-4cabc3a0f1c5
                Copyright © © Liu et al. 2016
                License:

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                Date received : 14 August 2015
                Date accepted : 8 January 2016
                Funding
                Funded by: FundRef 468, National Science Foundation of China;
                Award ID: 81470580, 81170283
                Award Recipient :
                Funded by: FundRef 469, National Science Foundation of China;
                Award ID: 91439127
                Award Recipient :
                Categories
                Subject: Research Article
                Custom metadata
                issue-copyright-statement © The Author(s) 2016

                ScienceOpen disciplines: Cardiovascular Medicine
                Keywords: mmp-2 gene,single nucleotide polymorphism,thoracic aortic dissection
                Data availability:
                ScienceOpen disciplines: Cardiovascular Medicine
                Keywords: mmp-2 gene, single nucleotide polymorphism, thoracic aortic dissection

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