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Published on: August 6, 2021
Role of inflammation-related gene polymorphisms in patients with central retinal vein occlusion
Richard Maier1, Iris Steinbrugger, Anton Haas
1Department of Ophthalmology, Medical University of Graz, Graz, Austria.
Insights
This study found no significant association between inflammation-related gene polymorphisms and central retinal vein occlusion (CRVO). Established risk factors like hypertension, diabetes, and smoking remain significant for CRVO development.
Area of Science:
- Ophthalmology
- Genetics
- Internal Medicine
Background:
- Central retinal vein occlusion (CRVO) is a significant cause of vision loss, particularly in individuals over 60.
- Established risk factors include arterial hypertension and diabetes mellitus.
- Inflammation-related gene polymorphisms are hypothesized as potential contributors to CRVO pathogenesis.
Purpose of the Study:
- To investigate the association between inflammation-related gene polymorphisms and the risk of developing CRVO.
- To determine if specific cytokine and chemokine gene polymorphisms are linked to CRVO in a large patient cohort.
Main Methods:
- A case-control study was conducted with 315 CRVO patients and 335 controls.
- Genotyping for polymorphisms in IL1β, IL1RN, IL4, IL6, IL10, IL18, TNF-α, MCP-1/CCL2, IL8, and RANTES was performed using a 5' exonuclease (TaqMan) assay.
- Logistic regression analysis was used to assess the association between risk factors and CRVO.
Main Results:
- No significant differences in genotype distributions or allele frequencies were observed for the investigated inflammation-related gene polymorphisms between CRVO patients and controls.
- Arterial hypertension, diabetes mellitus, and cigarette smoking were significantly more prevalent in the CRVO group.
- Arterial hypertension (OR 1.75), diabetes mellitus (OR 2.52), and smoking (OR 1.57) were identified as significant risk factors for CRVO.
Conclusions:
- The investigated inflammation-related gene polymorphisms are unlikely to be major risk factors for central retinal vein occlusion.
- Traditional risk factors such as hypertension, diabetes, and smoking play a significant role in the development of CRVO.
Objective:
Central retinal vein occlusion (CRVO) is a vision-threatening disease, primarily occurring among patients aged more than 60 years. Several risk factors, including arterial hypertension and diabetes mellitus, have been identified. Compression of the central retinal vein by an atherosclerotic retinal artery at the lamina cribrosa also has been implicated in the pathogenesis of the disease. Functional gene polymorphisms of cytokines or chemokines previously shown to affect atherogenesis or hemostasis are potential risk factors for CRVO. The present study investigates a hypothesized association between inflammation-related gene polymorphisms and the presence of CRVO in a relatively large cohort of patients.
Design:
Case-control study.
Participants:
The study group consisted of 315 patients with CRVO and 335 control subjects.
Methods:
Determination of genotypes was done by 5' exonuclease assay (TaqMan).
Main Outcome Measures:
Genotypes of interleukin (IL)1β -511C>T, IL1 receptor antagonist (IL1RN) 1018T>C, IL4 -584C>T, IL6 -174G>C, IL10 -592C>A, IL18 183A>G, tumor necrosis factor (TNF)-α -308G>A, monocyte chemoattractant protein (MCP)-1/CCL2 -2518A>G, IL8 -251A>T, and RANTES (CCL5) -403G>A polymorphisms.
Results:
Genotype distributions and allele frequencies of the investigated gene polymorphisms did not significantly differ between both groups (P>0.05). Arterial hypertension, diabetes mellitus, and cigarette smoking were significantly more frequent in patients with CRVO than among control subjects (arterial hypertension: 67.0% vs. 52.2%, P<0.001; diabetes mellitus: 16.8% vs. 6.3%, P<0.001, cigarette smoking: 32.1% vs. 23.6%, P = 0.02). In a logistic regression analysis, the presence of arterial hypertension was associated with an odds ratio (OR) of 1.75 (95% confidence interval [CI], 1.26-2.44) in those with CRVO, whereas an OR of 2.52 (95% CI, 1.46-4.35) was found in those with diabetes mellitus. A history of cigarette smoking was associated with an OR of 1.57 (95% CI, 1.09 - 2.25) for CRVO.
Conclusions:
Our data suggest that the investigated inflammation-related gene polymorphisms are unlikely major risk factors for CRVO.
Financial Disclosure(S):
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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