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Correlation of matrix metalloproteinase-2 single nucleotide polymorphisms with the risk of small vessel disease (SVD)

Min Zhang1, Wusheng Zhu2, Wenwei Yun3

  • 1Department of Neurology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu Province, China; Department of Neurology, Laboratory of Neurological Diseases, Changzhou No.2 People's Hospital, The Affiliated Hospital of Nanjing Medical University, Changzhou, Jiangsu Province, China.

Journal of the Neurological Sciences
|July 9, 2015
PubMed
Abstract

Insights

Matrix metalloproteinase-2 (MMP-2) gene variations are linked to small vessel disease (SVD) risk. Specifically, the MMP-2-1306 T/C polymorphism is identified as a direct risk factor for ischemic leukoaraiosis (ILA), a subtype of SVD.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Research

Background:

  • Matrix metalloproteinases (MMPs) dysregulation impacts cerebral vasculature and blood-brain barrier integrity, contributing to small vessel disease (SVD).
  • Investigating genetic predispositions, such as single nucleotide polymorphisms (SNPs) in MMP genes, is crucial for understanding SVD pathogenesis.

Purpose of the Study:

  • To evaluate the association between matrix metalloproteinase-2 (MMP-2) and matrix metalloproteinase-9 (MMP-9) gene polymorphisms and the risk of developing SVD.
  • To determine if specific MMP gene variants are independent predictors of SVD subtypes.

Main Methods:

  • Genotyping of 178 SVD patients and 100 controls for MMP-2-1306 T/C and MMP-9-1562 C/T polymorphisms using the TaqMan method.
  • SVD patients were subtyped into isolated lacunar infarction (ILI) and ischemic leukoaraiosis (ILA) based on the Fazekas scale.
  • Logistic regression analysis was employed to identify independent predictors of ILA, adjusting for age, sex, and vascular risk factors.

Main Results:

  • A significant correlation between SVD and hypertension was observed, with hypertension prevalent in the ILA subgroup.
  • The frequency of the MMP-2-1306 CC genotype was significantly higher in ILA patients compared to controls.
  • Logistic regression identified the MMP-2-1306 T/C polymorphism as an independent predictor for ILA (OR: 2.605; 95% CI, 1.067-6.364).

Conclusions:

  • The MMP-2-1306 T/C polymorphism is a significant genetic risk factor for ischemic leukoaraiosis (ILA).
  • These findings contribute to understanding the genetic underpinnings of SVD and may inform future risk stratification strategies.
Keywords:
Ischemic leukoaraiosisLacunar infarctionMatrix metalloproteinaseSingle nucleotide polymorphismSmall vessel diseaseStroke

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