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Risk of macular degeneration affected by polymorphisms in Matrix metalloproteinase-2: A case-control study in Chinese

Jie Cheng1, Xiaolin Hao, Zhongchen Zhang

  • 1Department of Ophthalmology, Aerospace Central Hospital, Beijing, China.

Medicine
|February 1, 2018
PubMed

Insights

This study found that specific single nucleotide polymorphisms (SNPs) in the Matrix metalloproteinase-2 (MMP-2) gene, namely rs243865 and rs243866, may influence the risk of developing age-related macular degeneration (AMD). Certain genotypes of these MMP-2 gene SNPs appear to offer a protective effect against AMD onset.

Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss in older adults.
  • Genetic factors, including single nucleotide polymorphisms (SNPs), are implicated in AMD pathogenesis.
  • Matrix metalloproteinase-2 (MMP-2) plays a role in extracellular matrix remodeling, potentially influencing AMD development.

Purpose of the Study:

  • To investigate the association between specific SNPs in the MMP-2 gene and the risk of AMD in the Chinese Han population.
  • To identify potential genetic markers for AMD susceptibility or protection.

Main Methods:

  • Case-control study involving 126 AMD patients and 141 healthy controls.
  • Genotyping of MMP-2 gene polymorphisms (rs243865 and rs243866) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Statistical analysis including chi-square tests and odds ratios (ORs) with 95% confidence intervals (CIs) to evaluate genotype and allele frequencies and AMD risk.

Main Results:

  • The MMP-2 gene rs243865 SNP showed a significant difference in variant allele carriers between AMD cases and controls, suggesting a protective role (P=.044, OR=0.583).
  • The T allele of rs243865 was associated with reduced AMD risk (P=.030, OR=0.611).
  • The GA+AA genotypes of rs243866 SNP were linked to a decreased AMD risk in individuals aged 65 years or younger (P=.028, OR=0.399).

Conclusions:

  • Specific SNPs in the MMP-2 gene (rs243865 and rs243866) are associated with the risk of developing age-related macular degeneration.
  • Certain MMP-2 genotypes may confer a protective effect against AMD, particularly in younger age groups.
  • Further research is warranted to validate these findings and elucidate the underlying mechanisms.

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