Association of polymorphic markers rs7947461 of the TRIM21 gene and rs33996649 of the PTPN22 gene with the risk of developing exogenous dry eye syndrome

Safonova T.N.

Krasnov Research Institute of Eye Diseases

ORCID: 0000-0002-4601-0904

Zaitseva G.V.

Krasnov Research Institute of Eye Diseases

ORCID: 0000-0001-8575-3076

Burdenny A.M.

Institute of General Pathology and Pathophysiology

ORCID: 0000-0002-9398-8075

Loginov V.I.

Institute of General Pathology and Pathophysiology

SPIN RSCI: 6249-5883
Scopus AuthorID: 7102884943
ORCID: 0000-0003-2668-8096

Association of polymorphic markers rs7947461 of the TRIM21 gene and rs33996649 of the PTPN22 gene with the risk of developing exogenous dry eye syndrome

Authors:

Safonova T.N., Zaitseva G.V., Burdenny A.M., Loginov V.I.

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Journal: Russian Annals of Ophthalmology. 2021;137(5‑2): 217‑223

DOI: 10.17116/oftalma2021137052217

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To cite this article:

Safonova TN, Zaitseva GV, Burdenny AM, Loginov VI. Association of polymorphic markers rs7947461 of the TRIM21 gene and rs33996649 of the PTPN22 gene with the risk of developing exogenous dry eye syndrome. Russian Annals of Ophthalmology. 2021;137(5‑2):217‑223. (In Russ.)
https://doi.org/10.17116/oftalma2021137052217

Подписка 2025 (Russian Annals of Ophthalmology)

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In this age of technological advancement, an increasing number of people is being exposed to external risk factors of damaging their ocular surface (wearing contact lenses, electromagnetic radiation from computers, mobile devices, etc.). However, the presence of external factors does not lead to a 100% risk of developing the dry eye disease (DED). The trigger mechanism in the development of autoimmune lesions of the ocular environment in some systemic diseases is known to be associated with molecular genetic factors. The search for molecular genetic disorders is based on the analysis of polymorphic markers of a number of genes responsible for the state of the eye surface.

PURPOSE

To study the relationship of polymorphic markers rs7947461 of the TRIM21 gene and rs33996649 of the PTPN22 gene with the risk of developing dry eye syndrome of exogenous etiology.

MATERIAL AND METHODS

The study included 57 people with exogenous risk factors for DED development. The control group included volunteers without a history of ophthalmic pathologies (n=75). Genotyping was done by real-time polymerase chain reaction followed by melting curve analysis. Statistical processing of data was done using the Statistica 6.1 RUS software for statistical analysis.

RESULTS

In the course of the study, 31 patients of the main group were diagnosed with DED and separated into the 1st subgroup; DED diagnosis was not confirmed in 26 patients, who were put into the 2nd subgroup. The 1st subgroup showed a significant increase in the frequency of predisposing genotypes of the TRIM21 and PTPN22 genes. The relative risk of developing DED turned out to be 2.5 and 4.86 times higher, respectively. In the 2nd subgroup, no statistically significant data was found on the presence of predisposing genotypes of polymorphic markers of the TRIM21 and PTPN22 genes (p=0.3).

CONCLUSION

The revealed association of polymorphic markers rs7947461 of the TRIM21 gene and rs33996649 of the PTPN22 gene with the risk of developing DED of exogenous etiology puts these loci as possible markers for diagnosing this pathology.

Keywords:

exogenous dry eye syndrome

polymorphic markers

TRIM21 gene

PTPN22 gene

Authors:

Safonova T.N.

Krasnov Research Institute of Eye Diseases

ORCID: 0000-0002-4601-0904

Zaitseva G.V.

Krasnov Research Institute of Eye Diseases

ORCID: 0000-0001-8575-3076

Burdenny A.M.

Institute of General Pathology and Pathophysiology

ORCID: 0000-0002-9398-8075

Loginov V.I.

Institute of General Pathology and Pathophysiology

SPIN RSCI: 6249-5883
Scopus AuthorID: 7102884943
ORCID: 0000-0003-2668-8096

Received:

24.03.2021

Accepted:

29.04.2021

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