Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics
Abstract
:1. Introduction
2. Results
3. Discussion
4. Methods
4.1. Patients
4.2. Diagnosis
4.3. Genotyping
4.4. Statistical Analysis
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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DPED (n = 76) | tAMD (n = 328) | PCV (n = 476) | RAP (n = 57) | |
---|---|---|---|---|
Mean age (years) | 77.2 ± 7.0 | 76.6 ± 8.7 | 73.3 ± 8.2 | 82.5 ± 6.5 |
p-value (vs. DPED) | 0.97 | 4.3 × 10−4 | 2.3 × 10−5 | |
Gender: Male | 42 (55.3%) | 227 (69.2%) | 359 (75.4%) | 23 (40.4%) |
p-value (vs. DPED) | 0.02 | 0.0003 | 0.09 | |
Presence of RPD | 17 (22.4%) | 65 (19.8%) | 9 (1.9%) | 34 (60.0%) |
p-value (vs. DPED) | 0.62 | 5.1 × 10−15 | 1.2 × 10−5 | |
DPED (n = 64) | tAMD (n = 328) | PCV (n = 476) | RAP (n = 57) | |
ARMS2 A69S(c.205G > T) (rs10490924)) | ||||
TT | 38 (59.4%) | 152 (46.3%) | 160 (33.6%) | 39 (68.4%) |
TG | 23 (36.0%) | 126 (38.4%) | 223 (46.8%) | 16 (28.1%) |
GG | 3 (4.6%) | 50 (15.3%) | 93 (19.6%) | 2 (3.5%) |
T-allele frequency | 0.77 | 0.66 | 0.57 | 0.82 |
p-value (vs. DPED) | 9.2 × 10−3 | 7.2 × 10−5 | 0.32 | |
CFH I62V(c.184G > A) (rs800292) | ||||
GG | 48 (75.0%) | 179 (54.6%) | 259 (54.4%) | 35 (61.4%) |
GA | 15 (23.4%) | 122 (37.2%) | 176 (37.0%) | 20 (35.1%) |
AA | 1 (1.6%) | 27 (8.2%) | 41 (8.6%) | 2 (3.5%) |
G-allele frequency | 0.87 | 0.73 | 0.73 | 0.79 |
p-value (vs. DPED) | 0.0011 | 0.008 | 0.11 |
RPD(+) (n = 17) | RPD(−) (n = 59) | p-Value | |
---|---|---|---|
Mean age (years) | 77.65 ± 7.47 | 77.19 ± 6.96 | 0.78 |
Gender: Male | 8 (47.1%) | 34 (57.6%) | 0.44 |
Baseline VA (LogMAR) | 0.11 ± 0.22 | 0.082 ± 0.16 | 0.80 |
Presence of MNV in the contralateral eye | 14 (82.4%) | 37 (62.7%) | 0.11 |
DPED height (µm) | 151.12 ± 52.44 | 227.24 ± 142.49 | 0.028 |
DPED width (µm) | 1339.77 ± 1182.09 | 1718.05 ± 1094.18 | 0.12 |
RPD(+) (n = 16) | RPD(−) (n = 48) | p-Value | |
ARMS2 A69S(c.205G > T) (rs10490924) | |||
TT | 12 (75.0%) | 26 (54.2%) | |
TG | 4 (25.0%) | 19 (39.6%) | |
GG | 0 (0.0%) | 3 (6.2%) | |
T-allele frequency | 0.88 | 0.74 | 0.11 |
CFH I62V (c.184G > A) (rs800292) | |||
GG | 12 (75.0%) | 36 (75.0%) | |
GA | 3 (18.8%) | 12 (25.0%) | |
AA | 1 (6.2%) | 0 (0.0%) | |
G-allele frequency | 0.84 | 0.88 | 0.65 |
MNV(+) (n = 51) | MNV(−) (n = 25) | p-Value | |
---|---|---|---|
Mean age (years) | 77.43 ± 6.96 | 76.84 ± 7.30 | 0.74 |
Gender: Male | 27 (53.0%) | 15 (60.0%) | 0.56 |
Baseline VA (LogMAR) | 0.083 ± 0.18 | 0.095 ± 0.17 | 0.56 |
Presence of RPD | 14 (27.5%) | 3 (12%) | 0.13 |
DPED height (µm) | 183.50 ± 112.43 | 264.72 ± 152.12 | 0.0018 |
DPED width (µm) | 1520.63 ± 1138.50 | 1863.56 ± 1058.77 | 0.086 |
MNV(+) (n = 48) | MNV(−) (n = 16) | p-Value | |
ARMS2 A69S(c.205G > T) (rs10490924)) | |||
TT | 31 (64.6%) | 7 (43.8%) | |
TG | 14 (29.2%) | 9 (56.2%) | |
GG | 3 (6.2%) | 0 (0.0%) | |
T-allele frequency | 0.79 | 0.72 | 0.39 |
CFH I62V(c.184G > A) (rs800292) | |||
GG | 37 (77.1%) | 11 (68.8%) | |
GA | 10 (20.8%) | 5 (31.2%) | |
AA | 1 (2.1%) | 0 (0.0%) | |
G-allele frequency | 0.88 | 0.84 | 0.65 |
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Shijo, T.; Sakurada, Y.; Tanaka, K.; Miki, A.; Yoneyama, S.; Machida, Y.; Chubachi, A.; Wakatsuki, Y.; Sugiyama, A.; Onoe, H.; et al. Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics. Int. J. Mol. Sci. 2021, 22, 4074. https://doi.org/10.3390/ijms22084074
Shijo T, Sakurada Y, Tanaka K, Miki A, Yoneyama S, Machida Y, Chubachi A, Wakatsuki Y, Sugiyama A, Onoe H, et al. Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics. International Journal of Molecular Sciences. 2021; 22(8):4074. https://doi.org/10.3390/ijms22084074
Chicago/Turabian StyleShijo, Taiyo, Yoichi Sakurada, Koji Tanaka, Akiko Miki, Seigo Yoneyama, Yumiko Machida, Aya Chubachi, Yu Wakatsuki, Atsushi Sugiyama, Hajime Onoe, and et al. 2021. "Drusenoid Pigment Epithelial Detachment: Genetic and Clinical Characteristics" International Journal of Molecular Sciences 22, no. 8: 4074. https://doi.org/10.3390/ijms22084074