Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients

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), a...

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Main Authors: Jun Wang, Ming Ming Yang, Yan Bo Li, Guo Dong Liu, Yan Teng, Xiao Min Liu
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Mediators of Inflammation
Online Access:http://dx.doi.org/10.1155/2013/748435
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author Jun Wang
Ming Ming Yang
Yan Bo Li
Guo Dong Liu
Yan Teng
Xiao Min Liu
author_facet Jun Wang
Ming Ming Yang
Yan Bo Li
Guo Dong Liu
Yan Teng
Xiao Min Liu
author_sort Jun Wang
collection DOAJ
description 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 (Pcorr=0.035, OR=1.42; Pcorr=0.02, OR=2.27, resp.): meanwhile, significant decreases in the frequencies of A allele and AA genotype for rs800292 were observed in DR patients compared with diabetic controls (Pcorr=0.04, OR=0.72; Pcorr=0.015, OR=0.51, 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.
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spelling doaj-art-05c4b2c890f44a399fbbca2e0ad817ae2025-08-20T02:03:00ZengWileyMediators of Inflammation0962-93511466-18612013-01-01201310.1155/2013/748435748435Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic PatientsJun Wang0Ming Ming Yang1Yan Bo Li2Guo Dong Liu3Yan Teng4Xiao Min Liu5Department of Endocrinology, First Affiliated Hospital of Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaEye Hospital, First Affiliated Hospital, Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaDepartment of Endocrinology, First Affiliated Hospital of Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaDepartment of Endocrinology, First Affiliated Hospital of Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaEye Hospital, First Affiliated Hospital, Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaDepartment of Endocrinology, First Affiliated Hospital of Harbin Medical University, 23 Post Road, Nangang Region, Harbin, Heilongjiang 150001, ChinaObjectives. 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 (Pcorr=0.035, OR=1.42; Pcorr=0.02, OR=2.27, resp.): meanwhile, significant decreases in the frequencies of A allele and AA genotype for rs800292 were observed in DR patients compared with diabetic controls (Pcorr=0.04, OR=0.72; Pcorr=0.015, OR=0.51, 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.http://dx.doi.org/10.1155/2013/748435
spellingShingle Jun Wang
Ming Ming Yang
Yan Bo Li
Guo Dong Liu
Yan Teng
Xiao Min Liu
Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
Mediators of Inflammation
title Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
title_full Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
title_fullStr Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
title_full_unstemmed Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
title_short Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
title_sort association of cfh and cfb gene polymorphisms with retinopathy in type 2 diabetic patients
url http://dx.doi.org/10.1155/2013/748435
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