Association ofCFHandCFBGene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
Open Access
- 24 June 2013
- journal article
- research article
- Published by Hindawi Limited in Mediators of Inflammation
- Vol. 2013, 1-7
- https://doi.org/10.1155/2013/748435
Abstract
Objectives.The complement system is a key component of innate immunity and has been implicated in the pathogenesis of diabetic retinopathy (DR). This study aimed at investigating whether polymorphisms of two genes in the complement pathway, complement factor H (CFH) and complement factor B (CFB), are associated with DR.Methods.552 well-defined subjects with type 2 diabetes, consisting of 277 DR patients and 275 diabetic controls, were recruited. Four Tag-SNPs rs1048709, rs537160, rs4151657, and rs2072633 in CFB and rs800292 (I62V) in CFH were examined using TaqMan Genotyping Assays.Results.There were significant increases in the frequencies of A allele and AA genotype for rs1048709 in DR patients compared with diabetic controls (,;,, resp.): meanwhile, significant decreases in the frequencies of A allele and AA genotype for rs800292 were observed in DR patients compared with diabetic controls (,;,, resp.). Joint effect of these two loci was also identified. Moreover, rs800292/AA genotype was found to be related with delayed progression to DR.Conclusions.CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which strengthens the concept that complement system plays an important role in the pathogenesis of DR.
Keywords
This publication has 39 references indexed in Scilit:
- Genetic and environmental factors associated with type 2 diabetes and diabetic vascular complicationsThe Review of Diabetic Studies, 2012
- Role of inflammation in the pathogenesis of diabetic retinopathyMiddle East African Journal of Ophthalmology, 2012
- Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association studyArthritis & Rheumatism, 2011
- Disease-associated N-terminal Complement Factor H Mutations Perturb Cofactor and Decay-accelerating ActivitiesJournal of Biological Chemistry, 2011
- Complement: a key system for immune surveillance and homeostasisNature Immunology, 2010
- Heritability of the Severity of Diabetic Retinopathy: The FIND-Eye StudyInvestigative Ophthalmology & Visual Science, 2008
- Characterization of the Vitreous Proteome in Diabetes without Diabetic Retinopathy and Diabetes with Proliferative Diabetic RetinopathyJournal of Proteome Research, 2008
- Contributions of Inflammatory Processes to the Development of the Early Stages of Diabetic RetinopathyExperimental Diabetes Research, 2007
- Genetics of Diabetic RetinopathyExperimental and Clinical Endocrinology & Diabetes, 2006
- Gene map of the extended human MHCNature Reviews Genetics, 2004