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Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD)

Sanna Seitsonen1, Päivi Onkamo, Suvi Torniainen

  • 1Department of Ophthalmology, University of Helsinki, Helsinki, Finland.

Molecular Immunology
|February 4, 2010
PubMed

Insights

Genetic variants in the properdin gene (CFP) were analyzed for association with age-related macular degeneration (AMD). No significant association was found, suggesting CFP does not confer AMD risk.

Area of Science:

  • Genetics
  • Ophthalmology
  • Immunology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Complement factor H (CFH) variants are strongly associated with AMD risk.
  • The complement alternative pathway plays a role in AMD pathogenesis.

Purpose of the Study:

  • To investigate the association between variants in the properdin gene (CFP) and AMD.
  • To determine if CFP contributes to AMD risk.

Main Methods:

  • Sequencing of ten exons of the CFP gene in 222 Finnish AMD patients.
  • Genotyping of single nucleotide polymorphisms (SNPs) in CFP.
  • Comparison of SNP frequencies between AMD patients and 86 age-matched controls.

Main Results:

  • Four single nucleotide polymorphisms (SNPs) were detected in the CFP gene.
  • Three SNPs were infrequent.
  • The frequent SNP rs1048118 in exon 10 showed no association with AMD (p=0.33).

Conclusions:

  • The properdin gene (CFP) does not appear to confer risk for age-related macular degeneration (AMD).
  • These findings suggest that CFP variants are not a significant genetic factor in AMD development.

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