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Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a
Orkun Muhsinoglu1, Ibrahim Akalin2, Remzi Karadag3
1Faculty of Medicine, Ophthalmology, Maltepe University, Istanbul, Turkey.
Purpose:
The MEFV gene encodes pyrin, a protein linked to increased severity of symptoms in Familial Mediterranean Fever (FMF). We consider that inflammation due to MEFV variants would increase eye inflammation and damage aqueous humor regulation. The present study is the first analysis investigating a MEFV (E148Q) variant as a marker protecting from glaucoma.
Methods:
In this prospective clinical analyze, we performed detailed gene sequencing focusing on 22 specific regions of the pyrin (MEFV) gene. The study involved two distinct groups: individuals diagnosed with glaucoma (n = 200) and control subjects without glaucoma (n = 100). Both groups were carefully selected to exclude individuals with symptoms or a previous diagnosis of Familial Mediterranean Fever (FMF). The diagnosis of glaucoma for each participant was rigorously established through comprehensive direct ophthalmic examinations.
Results:
A significant odds ratio for protection against glaucoma was found in carriers of the subclinical E148Q allele (OR:2.22; 95%CI: 1.098-4.485). No significant differences were found for other variants. One mutant E148Q-allele could decrease the probability of glaucoma development by approximately 68,9%. We observed no differences in the genotype frequency between glaucoma and healthy for the other MEFV gene variants.
Conclusion:
The pyrin variant of the MEFV gene resulting in a subclinical phenotype appears to reduce the incidence of glaucoma, and heterozygous pyrin (MEFV) E148Q allele carriers confer protection against glaucoma. It is important to consider the limitations arising from the relatively small number of studies conducted on this topic.
Insights
The MEFV gene
Area of Science:
- Ophthalmology
- Genetics
- Inflammation
Background:
- Familial Mediterranean Fever (FMF) is associated with MEFV gene variants.
- Inflammation from MEFV variants may affect eye health and aqueous humor regulation.
- The MEFV E148Q variant is investigated for its potential protective role against glaucoma.
Purpose of the Study:
- To analyze the MEFV E148Q variant as a potential protective marker against glaucoma.
- To investigate the association between MEFV gene variants and glaucoma incidence.
Main Methods:
- Prospective clinical analysis involving gene sequencing of the MEFV gene.
- Study included 200 glaucoma patients and 100 healthy controls, all without FMF.
- Glaucoma diagnosis confirmed by direct ophthalmic examinations.
Main Results:
- Carriers of the MEFV E148Q allele showed a significant odds ratio for protection against glaucoma (OR: 2.22).
- The E148Q allele may decrease glaucoma development probability by approximately 68.9%.
- No significant differences in genotype frequency were observed for other MEFV variants between groups.
Conclusions:
- A subclinical MEFV pyrin variant (E148Q) appears to reduce glaucoma incidence.
- Heterozygous carriers of the MEFV E148Q allele are protected against glaucoma.
- Further research is needed due to the limited number of studies on this topic.
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