Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis

ABSTRACT

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.

KEYWORDS:

• Pyrin (MEFV)
• E148Q
• heterozygous gene
• glaucoma
• variant

Acknowledgments

The present study is based on a scientific research thesis.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Author contributions

OM, IA: Concept, Design, Supervision, Submission; RK, SY: Data collection, writing, analyze, and interpretation; HB, JDN, and OM: Critical review.

Data access statement

All data is provided in full in the results section of this paper. The datasets generated during and analyzed during the current study are not publicly available but are available from the corresponding author at reasonable request.

Additional information

Funding

This study was supported by the Research Fund of Istanbul Medeniyet University, Istanbul, Turkey [Project Numbers: TSA-2013-426 and TSG-2013-333].