Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design and Population
2.2. Genotyping
2.3. Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
DR | diabetic retinopathy |
SNP | single-nucleotide polymorphism |
T2DM | type 2 diabetes mellitus |
NDR | non-diabetic retinopathy |
HbA1c | hemoglobin A1c |
DM | diabetes mellitus |
T1DM | type 1 diabetes mellitus |
ETDRS | Early Treatment Diabetic Retinopathy Study |
NPDR | Non-Proliferative Diabetic Retinopathy |
IRMAs | intraretinal microvascular abnormalities |
PDR | Proliferative Diabetic Retinopathy |
DME | Diabetic Macular Edema |
BMI | Body Mass Index |
SBP | systolic blood pressure |
DBP | diastolic blood pressure |
GFR | glomerular filtration rate |
OCT | Optical Coherence Tomography |
OCT-A | Optical Coherence Tomography–Angiography |
IQRs | interquartile ranges |
OR | odds ratio |
CI | confidence interval |
AMD | age-related macular degeneration |
RR | risk ratio |
INSR | insulin receptor |
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Variable | NDR n = 71 (45.5) | DR n = 85 (54.5) | Total n = 156 (100) | p-Value |
---|---|---|---|---|
Female | 28 (39.4) | 26 (30.6) | 54 (34.6) | 0.25 |
Age (years) | 74 [67–80] | 69 [65–74] | 72 [65.3–77] | 0.01 |
BMI (kg/m2) | 27.7 [25.7–30.4] | 27.8 [25.9–30.3] | 27.7 [25.7–30.3] | 0.95 |
DM duration (years) | 14 [6–18] | 21 [13.5–29] | 17 [10–26.75] | <0.01 |
HbA1c (%) | 6.5 [6.1–7] | 6.9 [6.3–7.2] | 6.7 [6.2–7.1] | 0.01 |
NPDR | - | 63 (74.1) | - | |
Duration DR (years) | - | 12 [7–18] | - | |
Macular Diabetic Edema | - | 61 (71.8) | - | |
Argon Laser Photocoagulation | 0 (0) | 19 (22.4) | 19 (12.2) | <0.01 |
Intravitreal injections | 9 (12.7) | 65 (76.5) | 74 (47.4) | <0.01 |
Vitrectomy | 8 (11.3) | 19 (22.4) | 27 (17.3) | 0.07 |
Cataract surgery | 29 (40.8) | 40 (47.1) | 69 (44.2) | 0.44 |
Glaucoma | 11 (15.5) | 19 (22.4) | 30 (19.2) | 0.28 |
Dry AMD | 23 (32.4) | 5 (5.9) | 28 (17.9) | <0.01 |
Wet AMD | 17 (23.9) | 0 (0) | 17 (10.9) | <0.01 |
Tablets | 70 (98.6) | 65 (76.5) | 135 (86.5) | <0.01 |
Insulin | 7 (9.9) | 35 (41.2) | 42 (26.9) | <0.01 |
Hypertension | 57 (80.3) | 67 (78.8) | 124 (79.5) | 0.82 |
Smoker | 47 (66.2) | 56 (65.9) | 103 (66) | 0.97 |
Smoking (pack-years) | 31 [0–65] | 41 [0–64.5] | 36 [0–65] | 0.59 |
Alcohol | 14 (19.7) | 14 (16.5) | 28 (17.9) | 0.60 |
Cardiovascular disease | 27 (38) | 40 (47.1) | 67 (42.9) | 0.26 |
Stroke | 4 (5.6) | 6 (7.1) | 10 (6.4) | 0.72 |
Dyslipidemia | 49 (69) | 70 (82.4) | 119 (76.3) | 0.05 |
Anemia | 0 (0) | 1 (1.2) | 1 (0.6) | 0.36 |
Nephropathy | 4 (5.6) | 7 (8.2) | 11 (7.1) | 0.53 |
Ca | 7 (9.9) | 1 (1.2) | 8 (5.1) | 0.01 |
Benign prostate hyperplasia | 5 (7) | 6 (7.1) | 11 (7.1) | 1 |
Hypothyroidism | 7 (9.9) | 5 (5.9) | 12 (7.7) | 0.35 |
rs4885322 | ||||
AA | 55 (77.5) | 49 (57.6) | 104 (66.7) | |
AG | 15 (21.1) | 34 (40) | 49 (31.4) | |
GG | 1 (1.4) | 2 (2.4) | 3 (1.9) | 0.03 |
rs11558538 | ||||
CC | 64 (90.1) | 64 (75.3) | 128 (82.1) | |
CT | 7 (9.9) | 20 (23.5) | 27 (17.3) | |
TT | 0 (0) | 1 (1.2) | 1 (0.6) | 0.05 |
Main | Excluding Extreme BMI (n = 3) | |||
---|---|---|---|---|
OR (95% CI) | p-Value | OR (95% CI) | p-Value | |
rs4885322 | ||||
per allele | 2.04 (1.03, 4.04) | 0.04 | 2.02 (1.01, 4.04) | 0.05 |
GG vs. AA+AG | 1.35 (0.10, 18.00) | 0.82 | 1.31 (0.10, 16.97) | 0.84 |
AG+GG vs. AA | 2.23 (1.07, 4.64) | 0.03 | 2.22 (1.06, 4.67) | 0.04 |
G vs. A | 1.87 (0.98, 3.55) | 0.06 | 1.86 (0.97, 3.58) | 0.06 |
rs11558538 | ||||
per allele | 3.27 (1.27, 8.39) | 0.01 | 3.59 (1.34, 9.62) | 0.01 |
TT vs. CC+CT | - | - | - | - |
CT+TT vs. CC | 3.31 (1.27, 8.61) | 0.01 | 3.64 (1.34, 9.89) | 0.01 |
T vs. C | 3.05 (1.24, 7.52) | 0.02 | 3.36 (1.30, 8.67) | 0.01 |
RR (95% CI) | p-Value | |
---|---|---|
rs4885322 | ||
per allele | 0.53 (0.19, 1.48) | 0.225 |
AG+GG vs. AA | 0.55 (0.18, 1.64) | 0.283 |
G vs. A | 0.60 (0.24, 1.51) | 0.279 |
rs11558538 | ||
per allele | 0.56 (0.17, 1.86) | 0.345 |
CT+TT vs. CC | 0.57 (0.16, 2.00) | 0.382 |
T vs. C | 0.58 (0.18, 1.85) | 0.360 |
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Flindris, K.; Lagkada, V.; Christodoulou, A.; Gazouli, M.; Moschos, M.; Markozannes, G.; Kitsos, G. Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy. Biomedicines 2025, 13, 341. https://doi.org/10.3390/biomedicines13020341
Flindris K, Lagkada V, Christodoulou A, Gazouli M, Moschos M, Markozannes G, Kitsos G. Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy. Biomedicines. 2025; 13(2):341. https://doi.org/10.3390/biomedicines13020341
Chicago/Turabian StyleFlindris, Konstantinos, Vivian Lagkada, Aikaterini Christodoulou, Maria Gazouli, Marilita Moschos, Georgios Markozannes, and George Kitsos. 2025. "Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy" Biomedicines 13, no. 2: 341. https://doi.org/10.3390/biomedicines13020341
APA StyleFlindris, K., Lagkada, V., Christodoulou, A., Gazouli, M., Moschos, M., Markozannes, G., & Kitsos, G. (2025). Investigation of UCHL3 and HNMT Gene Polymorphisms in Greek Patients with Type 2 Diabetes Mellitus and Diabetic Retinopathy. Biomedicines, 13(2), 341. https://doi.org/10.3390/biomedicines13020341