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Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients

Jun Wang1, Ming Ming Yang, Yan Bo Li

  • 1Department of Endocrinology, First Affiliated Hospital of Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, China.

Mediators of Inflammation
|July 19, 2013
PubMed

Insights

Genetic variations in complement factor H (CFH) and complement factor B (CFB) genes are linked to diabetic retinopathy (DR). Specific CFH and CFB gene polymorphisms are associated with DR presence and progression.

Area of Science:

  • Immunogenetics
  • Ophthalmology
  • Genetics

Background:

  • The complement system is crucial for innate immunity and implicated in diabetic retinopathy (DR) pathogenesis.
  • Investigating genetic factors influencing DR is vital for understanding disease mechanisms.

Purpose of the Study:

  • To examine the association between polymorphisms in complement factor H (CFH) and complement factor B (CFB) genes and diabetic retinopathy (DR).

Main Methods:

  • Genotyping of Tag-SNPs (rs1048709, rs537160, rs4151657, rs2072633 in CFB; rs800292 in CFH) in 552 type 2 diabetes subjects (277 DR patients, 275 controls) using TaqMan assays.

Main Results:

  • Significant associations found between DR and alleles/genotypes of CFB-rs1048709 (increased risk) and CFH-rs800292 (decreased risk).
  • The CFH-rs800292 AA genotype correlated with delayed DR progression.
  • A joint effect of CFH and CFB loci on DR was identified.

Conclusions:

  • CFH-rs800292 and CFB-rs1048709 polymorphisms are associated with diabetic retinopathy.
  • These findings reinforce the significant role of the complement system in DR development.
Abstract

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