Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266)
Abstract
:1. Introduction
1.1. Clinic
- Retrobulbar neuritis with normal appearance of the optic disc;
- Papillitis with a swollen optic disc;
- Perineuritis, which affects the optic nerve sheath, while the optic disc may or may not be swollen;
1.2. STAT
1.3. STAT4 Gene
1.4. Optic Neuritis and Multiple Sclerosis
2. Materials and Methods
2.1. Ethics Statement
2.2. Subjects
2.3. Genotyping
2.4. Serum IL-9 Levels Measurement
2.5. Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Symptoms | Typical ON |
---|---|
Age | Young patient < 50 years |
Visual acuity loss time | Acute/subacute visual acuity loss |
Visual acuity loss progression | Visual acuity loss progressing for few days or few weeks |
Damage | Mostly one eye |
Visual acuity | ↓ in 90% of cases |
Visual field | Changes noticed in 97% of cases |
Color vision | In acute period, blue-yellow color vision loss; in subacute period, red-green color vision loss |
Visual evoked potentials (VEP) | ↓ VEP latency |
Optical coherence tomography (OCT) | Optic nerve disc edema (mostly in superior and nasal quadrants), noticed in 20% of patients |
Pain | Acute painful visual acuity loss, especially ↑ with eye movement |
Optic nerve disc | Mostly normal optic nerve disc |
Vitreous | Normal |
Orbit | Normal |
Anamnesis | ON in anamnesis or MS in anamnesis. Patients without MS had MS-like lesions but were not followed up after ON treatment in our study, only redirected for neurological follow-up. |
Neurological symptoms | Neurological symptoms, allowing to suspect MS |
Treatment effect using steroids | Shortens the duration of the disease |
Improvement | Spontaneous improvement in 2–3 weeks |
Prognosis | Mostly good |
Recurrence (5–10 years) | 28% |
Gene | Genotype | With MS | Without MS | ||||
---|---|---|---|---|---|---|---|
ON Group (n = 32) n (%) | Control Group (n = 158) n (%) | p-Value | ON Group (n = 42) n (%) | Control Group (n = 158) n (%) | p-Value | ||
STAT4 (rs10181656) | CC | 20 (62.5) | 90 (56.96) | 0.721 | 26 (61.9) | 90 (56.96) | 0.827 |
CG | 11 (34.38) | 58 (36.71) | 14 (33.33) | 58 (36.71) | |||
GG | 1 (3.13) | 10 (6.33) | 2 (4.76) | 10 (6.33) | |||
Allele: | 0.024 | 0.020 | |||||
C | 51 (79.69) | 238 (65.38) | 66 (78.57) | 238 (65.38) | |||
G | 13 (20.31) | 126 (34.62) | 18 (21.43) | 126 (34.62) | |||
STAT4 (rs7574865) | GG | 23 (71.88) | 91 (57.59) | 0.303 | 25 (59.52) | 91 (57.59) | 0.968 |
GT | 8 (25) | 56 (35.44) | 14 (33.33) | 56 (35.44) | |||
TT | 1 (3.13) | 11 (6.96) | 3 (7.14) | 11 (6.96) | |||
Allele: | 0.003 | 0.070 | |||||
G | 54 (84.38) | 238 (65.93) | 64 (76.19) | 238 (65.93) | |||
T | 10 (15.63) | 123 (34.07) | 20 (23.81) | 123 (34.07) | |||
STAT4 (rs7601754) | AA | 22 (68.75) | 121 (76.58) | 0.631 | 31 (73.81) | 121 (76.58) | 0.927 |
GA | 9 (28.13) | 34 (21.52) | 10 (23.81) | 34 (21.52) | |||
GG | 1 (3.13) | 3 (1.9) | 1 (2.38) | 3 (1.9) | |||
Allele: | 0.547 | 0.198 | |||||
A | 53 (82.81) | 276 (79.54) | 72 (85.71) | 276 (79.54) | |||
G | 11 (17.19) | 71 (20.46) | 12 (14.29) | 71 (20.46) | |||
STAT4 (rs10168266) | CC | 26 (81.25) | 105 (66.46) | 0.213 | 27 (64.29) | 105 (66.46) | 0.873 |
CT | 5 (15.63) | 49 (31.01) | 13 (30.95) | 49 (31.01) | |||
TT | 1 (3.13) | 4 (2.53) | 2 (4.76) | 4 (2.53) | |||
Allele: | 0.003 | 0.135 | |||||
C | 57 (89.06) | 259 (71.75) | 67 (79.76) | 259 (71.75) | |||
T | 7 (10.94) | 102 (28.25) | 17 (20.24) | 102 (28.25) |
SNPs | ON vs. Controls | ||
---|---|---|---|
D’ | r2 | p-Value | |
rs10181656–rs7574865 | 0.867 | 0.743 | <0.001 |
rs10181656–rs7601754 | 0.858 | 0.034 | <0.001 |
rs10181656–rs10168266 | 0.707 | 0.348 | <0.001 |
rs7574865–rs7601754 | 0.998 | 0.046 | <0.001 |
rs7574865–rs10168266 | 0.814 | 0.467 | <0.001 |
rs7601754–rs10168266 | 0.998 | 0.032 | <0.001 |
Haplotype | STAT4 rs10181656 | STAT4 rs7574865 | STAT4 rs7601754 | STAT4 rs10168266 | Frequency | OR (95% CI) | p-Value | |
---|---|---|---|---|---|---|---|---|
Control | ON | |||||||
1 | C | G | A | C | 59.43 | 58.29 | 1.00 | – |
2 | G | T | A | T | 14.57 | 11.01 | 0.55 (0.27–1.09) | 0.087 |
3 | C | G | G | C | 11.78 | 14.81 | 1.24 (0.69–2.24) | 0.470 |
4 | G | T | A | C | 9.16 | 4.15 | 0.47 (0.19–1.17) | 0.100 |
5 | C | G | A | T | 2.59 | 0.70 | 0.29 (0.05–1.62) | 0.160 |
6 | G | G | A | C | 0.64 | 5.17 | 11.51 (2.29–57.80) | 0.003 |
7 | C | T | A | T | 0.32 | 4.30 | 19.47 (2.25–168.17) | 0.008 |
rare | * | * | * | * | NA | NA | 0.69 (0.06–7.49) | 0.760 |
Haplotype | STAT4 rs10181656 | STAT4 rs7574865 | STAT4 rs7601754 | STAT4 rs10168266 | Frequency | OR (95% CI) | p-Value | |
---|---|---|---|---|---|---|---|---|
Control | ON | |||||||
1 | C | G | A | C | 59.43 | 55.58 | 1.00 | – |
2 | G | T | A | T | 14.57 | 11.52 | 0.57 (0.24–1.38) | 0.210 |
3 | C | G | G | C | 11.78 | 14.28 | 1.21 (0.57–2.61) | 0.620 |
4 | G | T | A | C | 9.16 | 4.81 | 0.50 (0.15–1.64) | 0.260 |
5 | C | G | A | T | 2.59 | 1.24 | 0.49 (0.06–4.41) | 0.530 |
6 | C | T | A | T | 0.32 | 7.47 | 32.55 (3.66–289.72) | 0.002 |
7 | G | G | A | C | 0.64 | 5.09 | 9.05 (1.53–53.35) | 0.016 |
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Gedvilaite, G.; Duseikaitė, M.; Dubinskaite, G.; Kriauciuniene, L.; Zemaitiene, R.; Liutkevicienė, R. Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266). J. Clin. Med. 2024, 13, 10. https://doi.org/10.3390/jcm13010010
Gedvilaite G, Duseikaitė M, Dubinskaite G, Kriauciuniene L, Zemaitiene R, Liutkevicienė R. Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266). Journal of Clinical Medicine. 2024; 13(1):10. https://doi.org/10.3390/jcm13010010
Chicago/Turabian StyleGedvilaite, Greta, Monika Duseikaitė, Gabrielė Dubinskaite, Loresa Kriauciuniene, Reda Zemaitiene, and Rasa Liutkevicienė. 2024. "Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266)" Journal of Clinical Medicine 13, no. 1: 10. https://doi.org/10.3390/jcm13010010
APA StyleGedvilaite, G., Duseikaitė, M., Dubinskaite, G., Kriauciuniene, L., Zemaitiene, R., & Liutkevicienė, R. (2024). Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266). Journal of Clinical Medicine, 13(1), 10. https://doi.org/10.3390/jcm13010010