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Updated: Mar 17, 2026
Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
Published on: January 12, 2022
Association of CD59 and CFH polymorphisms with acute anterior uveitis in Chinese population
Q F Wang1, X F Huang1, Z L Zheng1
1Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
Insights
Genetic variations in CD59 and complement factor H (CFH) are linked to acute anterior uveitis (AAU) susceptibility. These associations appear to be influenced by gender, HLA-B27, and ankylosing spondylitis status.
Area of Science:
- Immunogenetics
- Ophthalmology
Background:
- Complement system regulators, CD59 and complement factor H (CFH), play roles in inflammation.
- Uveitis, particularly acute anterior uveitis (AAU), is an inflammatory eye condition.
- Genetic factors influencing complement pathways may contribute to AAU development.
Purpose of the Study:
- To investigate the association between CD59 and CFH genetic polymorphisms and AAU.
- To determine if specific single-nucleotide polymorphisms (SNPs) in CD59 and CFH are risk factors for AAU.
Main Methods:
- A case-control study involving 300 AAU patients and 300 healthy controls.
- Genotyping of five CD59 SNPs (rs831626, rs12272807, rs831625, rs11585, rs12576440) and one CFH SNP (rs1065489) using Sequenom MassARRAY.
- Statistical comparison of allele and genotype frequencies, with stratification by gender, HLA-B27, and ankylosing spondylitis (AS) status.
Main Results:
- No significant association between the studied polymorphisms and AAU in the overall cohort.
- CD59-rs831626 G allele and GG homozygosity were lower in HLA-B27-negative AAU patients.
- CFH-rs1065489 T allele and TT homozygosity were decreased in AAU patients with AS, particularly in males.
Conclusions:
- SNPs in CD59 (rs831626) and CFH (rs1065489) are associated with AAU susceptibility.
- The impact of these genetic variations on AAU risk is potentially gender-specific and influenced by HLA-B27 and AS status.
Abstract:
PurposeCD59 complement regulator and complement factor H (CFH) have important roles in complement activation pathways, which are known to affect the development of uveitis. The present study was performed to investigate whether an association exists between CD59 and CFH genetic polymorphisms and acute anterior uveitis (AAU).MethodsA total of 600 individuals (300 patients diagnosed with AAU and 300 healthy controls) were recruited for this case-control study. Five single-nucleotide polymorphisms (SNPs) in CD59 (rs831626, rs12272807, rs831625, rs11585, and rs12576440) and CFH-rs1065489 were genotyped using Sequenom MassARRAY technology. Allele and genotype frequencies were statistically compared between patients and controls using χ2 test. Analyses were stratified for gender, human leukocyte antigen (HLA)-B27, and ankylosing spondylitis (AS) status.ResultsNo significant association was found between any of the six polymorphisms and AAU. In HLA-B27-negative AAU patients, the frequencies of the G allele and GG homozygosity were lower in CD59-rs831626 when compared with controls (P=0.032). There were also significant decreases in the frequencies of T allele and TT homozygosity in CFH-rs1065489 in AAU patients with AS compared with controls (P=0.002). Furthermore, the frequencies of the T allele and TT homozygosity in CFH-rs1065489 were lower in the AAU male patients with AS compared with controls (P=0.015).ConclusionOur results revealed that SNPs CD59-rs831626 and CFH-rs1065489 were associated with the susceptibility of AAU. The influence on AAU could be gender specific and dependent on the HLA-B27 and AS status. No positive results were found in the overall group.
