The association of matrix metalloproteinases polymorphisms and interleukins in advanced age-related macular degeneration

Ophthalmic Genet. 2018 Aug;39(4):463-472. doi: 10.1080/13816810.2018.1484928.

Abstract

Purpose: To assess the impact of matrix metalloproteinase (MMP)1-1607 1G/2G (rs1799750), MMP7-181 A/G (rs11568818) single-nucleotide polymorphism and systemic cytokins interleukin-1 beta (IL-1β), IL-6 levels on the development of exudative age-related macular degeneration (eAMD) Methodology: The study group comprised 282 patients with eAMD, and the control group enrolled 379 randomly selected persons. The genotyping of MMP1-1607 (rs1799750) and MMP7-181 (rs11568818) was performed by using the polymerase chain reaction-based restriction fragment length polymorphism method. To determine IL-1β and IL-6 serum levels, the immunoenzymatic method with monoclonal antibodies coated plates was performed.

Results: MMP1 rs1799750 1G/2G genotype was more frequently found in the development of eAMD. It was associated with a 4.3-fold increased risk for eAMD under the codominant model and a 4.9-fold increased risk for eAMD under the overdominant model. The effect was more pronounced at the age of less than 65 years. IL-1β concentration was significantly higher for MMP1 rs1799750 1G/1G genotype and MMP7 rs11568818 A/G genotype in eAMD patients compared with control group subjects.

Conclusions: MMP1 rs1799750 1G/2G genotype was found to play a significant role in the development of eAMD at the age of less than 65 years. IL-1β concentration was significantly higher in eAMD patients for MMP1 rs1799750 1G/1G genotype and MMP7 rs11568818 A/G genotype compared with control group subjects.

Keywords: Age-related macular degeneration; gene polymorphism; interleukins; matrix metalloproteinases.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Gene Frequency
  • Genotype
  • Genotyping Techniques
  • Humans
  • Interleukin-1beta / blood*
  • Interleukin-6 / blood*
  • Male
  • Matrix Metalloproteinase 1 / genetics*
  • Matrix Metalloproteinase 7 / genetics*
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Wet Macular Degeneration / blood*
  • Wet Macular Degeneration / diagnosis
  • Wet Macular Degeneration / genetics*

Substances

  • IL6 protein, human
  • Interleukin-1beta
  • Interleukin-6
  • MMP7 protein, human
  • Matrix Metalloproteinase 7
  • MMP1 protein, human
  • Matrix Metalloproteinase 1