Genetic Investigation of Complement Pathway Genes in Type 2 Diabetic Retinopathy: An Inflammatory Perspective

Area of Science:

• Genetics
• Ophthalmology
• Immunology

Background:

• Diabetic retinopathy (DR) pathogenesis is complex and multifactorial.
• The role of the complement pathway in DR development requires further investigation.

Purpose of the Study:

• To investigate the association between complement pathway genes (SERPING1 and C5) and susceptibility to diabetic retinopathy.
• To explore the genetic contribution of specific C5 polymorphisms to DR progression.

Main Methods:

• Genotyping of eight haplotype-tagging single nucleotide polymorphisms (SNPs) in SERPING1 and C5.
• Study included 570 individuals with type 2 diabetes: 295 DR patients and 275 diabetic controls.
• Statistical analysis including recessive models and stratification analysis was performed.

Main Results:

• A marginal association was found between C5 SNP rs17611 and overall DR.
• Significant associations were observed for rs17611 with proliferative DR (PDR), showing decreased allele and homozygosity frequencies.
• A haplotype (AA) in C5 was significantly associated with increased PDR risk.

Conclusions:

• Polymorphisms in the C5 gene are associated with diabetic retinopathy, particularly PDR.
• SERPING1 is not a major genetic component in DR susceptibility.
• These findings suggest a link between the complement pathway and DR pathogenesis.