Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy
Background: Keratoconus (KC, or corneal ectasia) is a multifactorial disease with a genetic component and an average annual incidence rate of 2.0/100,000 persons. Lattice corneal stromal dystrophy (LCD), a monogenic disorder with varying phenotypic manifestations, is the most common hereditary corne...
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| Format: | Article |
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Ukrainian Society of Ophthalmologists
2020-04-01
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| Series: | Journal of Ophthalmology |
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| Online Access: | https://www.ozhurnal.com/en/archive/2020/2/1-fulltext |
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| author | Livshits L.A. Drozhzhyna G.I. Kucherenko A.M. Ivanovska O.V. Gaidamaka T.B. Gorodna O.V. Sereda K.V. |
| author_facet | Livshits L.A. Drozhzhyna G.I. Kucherenko A.M. Ivanovska O.V. Gaidamaka T.B. Gorodna O.V. Sereda K.V. |
| author_sort | Livshits L.A. |
| collection | DOAJ |
| description | Background: Keratoconus (KC, or corneal ectasia) is a multifactorial disease with a genetic component and an average annual incidence rate of 2.0/100,000 persons. Lattice corneal stromal dystrophy (LCD), a monogenic disorder with varying phenotypic manifestations, is the most common hereditary corneal dystrophy associated with mutations in the TGFBI gene in Ukraine, with as much as 40.2% of cases attributed to this disease.
Purpose: To elucidate the role of polymorphic variants in the IL6 promoter (-174 G/C) and IL10 (-1082G/A and -592C/A) as factors of a genetic predisposition to KC and recurrent corneal erosion in Ukrainian patients with LCD.
Material and Methods: All patients underwent a routine eye examination including visual acuity assessment, biomicroscopy, fluorescein testing, tonometry and ophthalmoscopy. In addition, patients with KC underwent keratotopography, pachymetry, remote biometry and gonioscopy. Genotyping was done for IL6 -174 G/C, IL10 -1082G/A and IL10 -592C/A by polymerase chain reaction followed by restriction fragment length polymorphism. Fexact test was used for statistical analyses.
Results: The frequency of homozygotes (AA) for IL10 rs1800896 was increased, whereas the frequency of homozygotes (CC) for IL6 174G/С was decreased in patients with KC compared to controls (0.25 vs 0.19 and 0.18 vs 0.22, respectively), although the differences were not statistically significant. The frequency of IL6 C allele carriers was significantly higher among patients with LCD and recurrent corneal erosion than controls (0.78 vs 0.66, respectively; p < 0.05). There was a statistically significant difference in the proportion of carriers of the IL10 -592A allele between patients with recurrent corneal erosion and population sample (0.483 vs 0.327, respectively, p < 0.05).
Conclusion: IL6 174G/С, IL10 -592С/A and IL10 -1082G/C and the genes determining the pathological processes in the cornea produce a cumulative effect towards modifying the clinical phenotype in keratoconus and lattice corneal dystrophy. |
| first_indexed | 2024-03-08T22:27:53Z |
| format | Article |
| id | doaj.art-eb9224f164d14f8eb3218ab0bd24ce31 |
| institution | Directory Open Access Journal |
| issn | 2412-8740 |
| language | English |
| last_indexed | 2024-03-08T22:27:53Z |
| publishDate | 2020-04-01 |
| publisher | Ukrainian Society of Ophthalmologists |
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| series | Journal of Ophthalmology |
| spelling | doaj.art-eb9224f164d14f8eb3218ab0bd24ce312023-12-18T09:52:12ZengUkrainian Society of OphthalmologistsJournal of Ophthalmology2412-87402020-04-01231110.31288/oftalmolzh20202311Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophyLivshits L.A.0Drozhzhyna G.I.1Kucherenko A.M.2Ivanovska O.V.3Gaidamaka T.B.4Gorodna O.V.5Sereda K.V.6Institute of Molecular Biology and Genetics, National Academy of Sciences of UkraineFilatov Institute of Eye Diseases and Tissue Therapy, National Academy of Medical Science of UkraineInstitute of Molecular Biology and Genetics, National Academy of Sciences of UkraineInstitute of Molecular Biology and Genetics, National Academy of Sciences of UkraineFilatov Institute of Eye Diseases and Tissue Therapy, National Academy of Medical Science of UkraineInstitute of Molecular Biology and Genetics, National Academy of Sciences of UkraineFilatov Institute of Eye Diseases and Tissue Therapy, National Academy of Medical Science of UkraineBackground: Keratoconus (KC, or corneal ectasia) is a multifactorial disease with a genetic component and an average annual incidence rate of 2.0/100,000 persons. Lattice corneal stromal dystrophy (LCD), a monogenic disorder with varying phenotypic manifestations, is the most common hereditary corneal dystrophy associated with mutations in the TGFBI gene in Ukraine, with as much as 40.2% of cases attributed to this disease. Purpose: To elucidate the role of polymorphic variants in the IL6 promoter (-174 G/C) and IL10 (-1082G/A and -592C/A) as factors of a genetic predisposition to KC and recurrent corneal erosion in Ukrainian patients with LCD. Material and Methods: All patients underwent a routine eye examination including visual acuity assessment, biomicroscopy, fluorescein testing, tonometry and ophthalmoscopy. In addition, patients with KC underwent keratotopography, pachymetry, remote biometry and gonioscopy. Genotyping was done for IL6 -174 G/C, IL10 -1082G/A and IL10 -592C/A by polymerase chain reaction followed by restriction fragment length polymorphism. Fexact test was used for statistical analyses. Results: The frequency of homozygotes (AA) for IL10 rs1800896 was increased, whereas the frequency of homozygotes (CC) for IL6 174G/С was decreased in patients with KC compared to controls (0.25 vs 0.19 and 0.18 vs 0.22, respectively), although the differences were not statistically significant. The frequency of IL6 C allele carriers was significantly higher among patients with LCD and recurrent corneal erosion than controls (0.78 vs 0.66, respectively; p < 0.05). There was a statistically significant difference in the proportion of carriers of the IL10 -592A allele between patients with recurrent corneal erosion and population sample (0.483 vs 0.327, respectively, p < 0.05). Conclusion: IL6 174G/С, IL10 -592С/A and IL10 -1082G/C and the genes determining the pathological processes in the cornea produce a cumulative effect towards modifying the clinical phenotype in keratoconus and lattice corneal dystrophy.https://www.ozhurnal.com/en/archive/2020/2/1-fulltextkeratoconuslattice corneal dystrophyrecurrent erosionsclinical phenotypeinterleukin gene polymorphismgenetic predisposition |
| spellingShingle | Livshits L.A. Drozhzhyna G.I. Kucherenko A.M. Ivanovska O.V. Gaidamaka T.B. Gorodna O.V. Sereda K.V. Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy Journal of Ophthalmology keratoconus lattice corneal dystrophy recurrent erosions clinical phenotype interleukin gene polymorphism genetic predisposition |
| title | Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy |
| title_full | Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy |
| title_fullStr | Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy |
| title_full_unstemmed | Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy |
| title_short | Role of IL6 -174 G/C, IL10 1082G/A and IL10 -592C/A in the pathogenesis of keratoconus and development of recurrent erosion in Ukrainian patients with lattice corneal dystrophy |
| title_sort | role of il6 174 g c il10 1082g a and il10 592c a in the pathogenesis of keratoconus and development of recurrent erosion in ukrainian patients with lattice corneal dystrophy |
| topic | keratoconus lattice corneal dystrophy recurrent erosions clinical phenotype interleukin gene polymorphism genetic predisposition |
| url | https://www.ozhurnal.com/en/archive/2020/2/1-fulltext |
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