Association studies of MMP-9 in Parkinson's disease and amyotrophic lateral sclerosis

PLoS One. 2013 Sep 9;8(9):e73777. doi: 10.1371/journal.pone.0073777. eCollection 2013.

Abstract

Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS) share several clinical and neuropathologic features, and studies suggest that several gene mutations and polymorphisms are involved in both conditions. Matrix metalloproteinase-9 (MMP-9) is implicated in the pathogenesis of PD and ALS, and the C(-1562)T polymorphism in the MMP-9 gene leads to higher promoter activity. We therefore investigated whether this polymorphism predisposes to both PD and sporadic ALS (sALS). Samples from 351 subjects with PD and 351 healthy controls from two major cities in China were compared, while samples from 226 subjects with sALS were compared to the same number of controls from three centers in China. A possible association between the C(-1562)T polymorphism in the MMP-9 gene and PD or sALS was assessed by restriction fragment length polymorphism (RFLP) analysis. Our results show a significant association between the C(-1562)T polymorphism in the MMP-9 gene and risk of PD (odds ratio = 2.268, 95% CI 1.506-3.416, p<0.001) as well as risk of sALS (odds ratio = 2.163, 95% CI 1.233-3.796, p = 0.006), supporting a role for MMP-9 polymorphism in the risk for PD and sALS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Amyotrophic Lateral Sclerosis / ethnology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Asian People / genetics
  • China
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 9 / genetics*
  • Middle Aged
  • Odds Ratio
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Risk Factors

Substances

  • Matrix Metalloproteinase 9

Supplementary concepts

  • Amyotrophic lateral sclerosis 1

Grants and funding

This study was supported by the National Natural Science Foundation of China (number 30700243), the Sichuan Project of Science and Technology Support (number 2010SZ0086) and the National “863” High-Technology Research and Development Program (number 2006AA02A408). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.