Genetic variation of MMP-2(-735 C>T) and MMP-9(-1562 C>T) gene in risk of development of HAND and severity of HAND

J Gene Med. 2016 Sep;18(9):250-7. doi: 10.1002/jgm.2897.

Abstract

Background: Astrocytes are susceptible to HIV-1 infection. Neurocognitive dysfunction has also been associated with the toxicity of certain antiretroviral drugs. HIV-1 induced neurological toxicity has been associated with deficiency of matrix metalloproteinases. Therefore, we evaluated the association of MMP-2(-735C > T) and MMP-9(-1562C > T) polymorphisms with respect to the susceptibility of developing HIV-associated neurocognitive disorders (HAND) and its severity.

Methods: We enrolled 50 HIV-infected individuals with HAND, 130 without HAND and 150 unrelated healthy controls. Polymorphism for MMP-2-735C > T and MMP-9-1562C > T genes was genotyped by polymerase chain reaction-restriction fragment length polymorphism.

Results: Individuals with the MMP-2 -735 CT genotype and -735 T allele were at higher risk of developing HAND [odds ratio (OR) = 5.27, 95% confidence interval (CI) = 1.30-21.35, p = 0.02 and OR = 2.27, 95% CI = 1.57-3.27, p = 0.0001 respectively]. The MMP-2 -735 CT genotype and -735 T allele of MMP-2 were associated with a reduced likelihood of severe HAND (OR =0.32, 95% CI = 0.15-0.66, p = 0.002 and OR = 0.32, 95% CI = 0.14-0.71, p = 0.005). When evaluating gene-gene interaction models, the combined genotype MMP-2-735TT + MMP-9-1562CC and MMP-2-735CT + MMP-9-1562CT was associated with the risk of developing HAND (OR = 4.84, p = 0.0001, OR = 1.81, p = 0.03). However, individuals with the combined genotype of MMP-2-735TT + MMP-9-1562CC were found to be protective for severe HAND (OR = 0.30, 95% CI = 0.13-0.67, p = 0.003).

Conclusions: Individuals with the MMP-2 -735CT genotype, -735 T allele and combined genotype MMP-2 -735TT + MMP-9 -1562CC had an enhanced risk of developing HAND. Those with the MMP-2 -735 CT genotype, -735 T allele and combined genotype of MMP-2-735TT + MMP-9-1562CC were suggested to have protection from developing severe HAND.

Keywords: HAND; HIV; MMP-2; MMP-9; susceptibility.

MeSH terms

  • AIDS Dementia Complex / genetics*
  • AIDS Dementia Complex / pathology
  • Adult
  • Alleles
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 2 / genetics*
  • Matrix Metalloproteinase 9 / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Severity of Illness Index

Substances

  • Matrix Metalloproteinase 2
  • Matrix Metalloproteinase 9