Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Zhang, Baiping; Dhillon, Sahar; Geary, Irene; Howell, W. Martin; Iannotti, Fausto; Day, Ian N. M.; Ye, Shu

doi:10.1161/hs0901.095382

Cited by 72 publications

(50 citation statements)

References 56 publications

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“…A total of five populations (N = 729) were included in the database and used for further analysis. These populations included individuals from France and England (Zhang et al, 2001;Lamblin et al, 2002), Japan and Korea (Maeda et al, 2001;Lee et al, 2010), and the African-American population from the USA (Ferrand et al, 2002). Population subdivision was assessed by analysis of molecular variance (AMOVA) using ethnicity as subdivision criteria with the Arlequin Software v.3.5.…”

Section: Comparison With Other Populationsmentioning

confidence: 99%

“…We compared our data with those of Asian (Japanese and Korean populations), European (French and English populations), and African-American (USA) populations (Maeda et al, 2001;Zhang et al, 2001;Ferrand et al, 2002;Lamblin et al, 2002;Lee et al, 2010). The first component separated Mestizo, Mazahua, Asian, African-American, and French populations from the rest.…”

Section: Comparison With Other Populationsmentioning

confidence: 99%

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Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

Camacho-Mejorado¹,

Noris²,

Santana³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. We studied the interethnic variation of the MMP-9 microsatellite in the Mestizo and Amerindian populations using R. Camacho-Mejorado et al. 2930©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (1): 2929-2939 (2015) blood samples collected from 435 healthy unrelated individuals from the Central Valley of Mexico. DNA samples were genotyped using the -90 (CA) [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] repeat near the MMP transcriptional start site using capillary electrophoresis. Our data were compared with those from African, Asian, and European populations (N = 729). Both Mestizo and Amerindian populations were in Hardy-Weinberg equilibrium (P ≥ 0.05). However, strong genetic heterogeneity was found within the Mestizo population (94%, P ≤ 0.0001), which exhibited the highest frequency of Amerindian, African, and European alleles. Likewise, Amerindians showed 6.7% variation among populations (P ≤ 0.0001), suggesting a genetic substructure potentially associated with linguistic affiliations. These findings were corroborated with principal component and population differentiation analyses, which showed relative proximity among the Mestizos and their historical parental populations: Asian (F st ≥ 0.05), European (F st ≥ 0.09), and African (F st ≥ 0.02). Nevertheless, important differences were found between Mestizo and Nahuas (P ≤ 0.0001), and between Mestizo and Me'Phaas (P ≤ 0.0001). These findings highlight the importance of determining local-specific patterns to establish the population variability of MMP-9 and other polymorphic markers. Validation of candidate markers is critical to identifying risk factors; however, this depends on knowledge of population genetic variation, which increases the possibility of finding true causative variants. We also show that dissimilar ethnic backgrounds might lead to spurious associations. Our study provides useful considerations for greater accuracy and robustness in future genetic association studies.

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Section: Comparison With Other Populationsmentioning

confidence: 99%

Section: Comparison With Other Populationsmentioning

confidence: 99%

Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

Camacho-Mejorado¹,

Noris²,

Santana³

et al. 2015

Genet. Mol. Res.

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“…7) However, high levels of MMP-2 and -9 have been detected in various types of structurally unstable vasculature including cerebral aneurysms, atherosclerotic carotid arteries, and brain arteriovenous malformations. 9,15) Previously, we reported increased endothelial expression of MMP-2 and -9, and tissue inhibitors of metalloproteinase (TIMP)-2 in cerebral cavernous malformations with hemorrhage, 6) suggesting involvement in the pathophysiology of cavernous malformations.…”

Section: Introductionmentioning

confidence: 99%

Association of Cavernous Malformation Within Vestibular Schwannoma: Immunohistochemical Analysis of Matrix Metalloproteinase-2 and -9 -Case Report-

Sakata

Fujimura

Watanabe

et al. 2007

Neurol. Med. Chir.(Tokyo)

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A 65-year-old man presented with a rare case of cavernous malformation with hemorrhage located within vestibular schwannoma. He had suffered hearing impairment for 20 years, and was admitted to our hospital with vertigo and ataxic gait. Neurological examination revealed hearing loss, facial nerve paresis, and left cerebellar ataxia. Magnetic resonance imaging demonstrated a left vestibular schwannoma 35 mm in diameter, as well as a heterogeneous area associated with hypointense rim within the tumor, indicating intratumoral hemorrhage. Subtotal removal of the tumor together with the fibrously encapsulated hematoma was performed through a left retrosigmoid craniotomy. Histological examination of the surgical specimen revealed cavernous malformation within vestibular schwannoma. Immunohistochemistry for matrix metalloproteinase (MMP)-2 and -9, and tissue inhibitors of metalloproteinase-2 showed strong expression in the endothelial cells of the cavernous malformation, but not in the interstitial structures. His symptoms significantly improved after surgery and he underwent gamma-knife therapy for the residual tumor. Cavernous malformations may show dynamic characteristics such as repeated hemorrhage and de novo formation. MMP-2 and -9, which are implicated in angiogenesis and hemorrhage, may be upregulated in such tumors.

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“…Elastin and collagens are major structural components of the vascular wall, and it has been suggested that elastinolysis is particularly pertinent to vessel dilation, while collagenolysis relates to aneurysm rupture. 45 Inrecentyears,compellingevidencehasindicatedthat a number of matrix metalloproteinases (MMPs), which possess proteolytic activity against extracellular matrix proteins such as elastin and collagens, play an important roleinthediseaseetiopathologyofvarioustypesofaneurysms. 45 Although the genetic basis of CA is poorly understood, the identification of susceptible genetic variants may increase our understanding of CA formation and rupture mechanisms.Extensivegeneticassociationstudiesareurgently needed to elucidate the molecular pathogenesis of CAs.…”

mentioning

confidence: 99%

“…45 Inrecentyears,compellingevidencehasindicatedthat a number of matrix metalloproteinases (MMPs), which possess proteolytic activity against extracellular matrix proteins such as elastin and collagens, play an important roleinthediseaseetiopathologyofvarioustypesofaneurysms. 45 Although the genetic basis of CA is poorly understood, the identification of susceptible genetic variants may increase our understanding of CA formation and rupture mechanisms.Extensivegeneticassociationstudiesareurgently needed to elucidate the molecular pathogenesis of CAs. 46 In recent years, candidate gene association studies havebeenthemostcommonapproachtoidentifysusceptibilitygenesforcomplexdiseasessuchasCA.However, our ability to identify relevant candidates is generally restricted by our understanding of disease pathophysiology, which in many cases is limited.…”

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confidence: 99%

ADAMTS genes and the risk of cerebral aneurysm

Arning

Jeibmann²,

Köhnemann

et al. 2016

JNS

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C erebral aneurysms (CAs) are dilations of cerebral arteries that affect 2%-5% of the population. 35 Although most of these lesions are clinically unapparent, CA rupture and subarachnoid hemorrhage usually occur between 40 and 60 years of age. Therefore, early identi fication of a CA is essential for preventing subsequent bleeding events, which often lead to substantial morbidity and mortality. 4,16 The pathogenesis of CA formation and rupture is complex and seems to arise from multiple factors. A familial predispositionisthestrongestriskfactorforthedevelopment of a CA; siblings of patients with CA are at a 4-fold increased risk of hemorrhage, 40 suggesting a significant genetic component to CA pathogenesis. 37Environmental factors,suchassmoking,hypertension,andextensivealcohol intake, appear to play a more important role in the abbreviatioNs CA = cerebral aneurysm; FDR = false discovery rate; GWAS = genome-wide association study; HWE = Hardy-Weinberg equilibrium; ICB = intracerebral bleeding; IS = ischemic stroke; MI = myocardial infarction; MMP = matrix metalloproteinase; PS = pediatric stroke; SAB = subarachnoidal bleeding; SNP = single nucleotide polymorphism; TSR = thrombospondin Type 1 sequence repeat motif. submitted January 2, 2015. methods To identify susceptible genetic variants, the authors investigated 8 single nucleotide polymorphisms (SNPs) in 4 genes from the ADAMTS family (ADAMTS2, -7, -12, and -13) known to be associated with vascular diseases. The study included 353 patients with CAs and 1055 healthy adults. results The authors found significant associations between CA susceptibility and genetic variations in 3 members of the ADAMTS family. The largest risk for CA (OR 1.32, p = 0.006) was observed in carriers of the ADAMTS2 variant rs11750568, which has been previously associated with pediatric stroke. Three SNPs under investigation are associated with a protective effect in CA pathogenesis (ADAMTS12 variant rs1364044: OR 0.65, p = 0.0001; and ADAMTS13 variants rs739469 and rs4962153: OR 0.77 and 0.63, p = 0.02 and 0.0006, respectively), while 2 other ADAMTS13 variants may confer a significant risk (rs2301612: OR 1.26, p = 0.011; rs2285489: OR 1.24, p = 0.02). coNclusioNs These results suggest that reduced integrity of the endothelial wall, as conferred by ADAMTS variants, together with inflammatory processes and defective vascular remodeling plays an important role in CA pathogenesis, although the mechanism of action remains unknown. The authors' findings may lead to specific screening of at-risk populations in the future.

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Polymorphisms in Matrix Metalloproteinase-1, -3, -9, and -12 Genes in Relation to Subarachnoid Hemorrhage

Cited by 72 publications

References 56 publications

Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

Association of Cavernous Malformation Within Vestibular Schwannoma: Immunohistochemical Analysis of Matrix Metalloproteinase-2 and -9 -Case Report-

ADAMTS genes and the risk of cerebral aneurysm

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