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Association between CFH Y402H polymorphism and age related macular degeneration in North Indian cohort

Neel Kamal Sharma1, Amod Gupta, Sudesh Prabhakar

  • 1Department of Neurology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Plos One
|August 8, 2013
PubMed

Insights

The study found that lower serum complement factor H (CFH) levels and the CFH Y402H gene variant are associated with age-related macular degeneration (AMD) in North India. This polymorphism impacts AMD risk by altering CFH serum concentrations.

Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Complement factor H (CFH) plays a crucial role in regulating the immune system.
  • The CFH Y402H polymorphism has been implicated in AMD pathogenesis.

Purpose of the Study:

  • To determine serum CFH levels in AMD patients.
  • To investigate the association between CFH levels and the CFH Y402H polymorphism in AMD.
  • To explore the causal relationship using a Mendelian randomization approach.

Main Methods:

  • Recruitment of 115 AMD patients and 61 normal controls.
  • Assay of single nucleotide polymorphism (SNP) using real-time PCR.
  • Measurement of serum CFH levels by ELISA and standardization to total serum protein.

Main Results:

  • Genotype and allele frequencies of CFH Y402H differed significantly between AMD patients and controls (p<0.0001).
  • Serum CFH levels were significantly lower in AMD patients compared to normal controls (p=0.001).
  • Mendelian randomization confirmed that CFH Y402H polymorphism influences AMD risk via CFH serum levels.

Conclusions:

  • The CFH Y402H polymorphism is a significant risk factor for AMD in the North Indian population.
  • Lower serum CFH levels are associated with AMD.
  • The CFH Y402H polymorphism contributes to AMD risk by modifying serum CFH levels.

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