MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Subjects
2.2. Genotyping
2.3. Statistical Analysis
3. Results
3.1. Characteristics of the Study Groups
3.2. Association of MMP2 rs243866 and rs2285053 Polymorphisms in the Promoter Region with AD Risk
3.3. MMP2 rs243866 and rs2285053 Genotypes and Main Clinical Features in AD Patients
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Parameter | Controls (n = 373) | LOAD Total (n = 215) | p-Value | LOAD Females | LOAD Males | p-Value |
---|---|---|---|---|---|---|
(n = 148) | (n = 67) | |||||
Age (years) | 76.70 ± 7.73 | 79.45 ± 5.85 | <0.0001 | 79.73 ± 5.71 | 78.82 ± 6.16 | 0.31 |
Age of onset (years) | - | 77.21 ± 6.16 | - | 77.32 ± 6.16 | 76.97 ± 6.21 | 0.71 |
Sex (females/males) | 226/147 | 148/67 | 0.05 | - | - | - |
MoCA score | 27.61 ± 1.38 | 15.47 ± 5.95 | <0.0001 | 15.58 ± 5.95 | 15.27 ± 6.01 | 0.72 |
APOE ε4 positivity | 69 (18.50%) | 91 (42.33%) | <0.0001 | 62 (41.89%) | 29 (43.28%) | 0.85 |
Allele/ Genotype | LOAD (n = 215) | Controls (n = 373) | Genetic Model | Logistic Regression Analysis | |
---|---|---|---|---|---|
p-Value | OR (95% CI) | ||||
Allele contrast (A vs. G) | 0.53 | 1.09 (0.83–1.43) | |||
G | 315 (73.26%) | 559 (74.93%) | Codominant (GA vs. GG) | 0.61 | 0.90 (0.61–1.33) |
A | 115 (26.74%) | 187 (25.07%) | Codominant (AA vs. GG) | 0.20 | 1.52 (0.79–2.90) |
GG | 123 (57.21%) | 212 (56.84%) | Dominant (AA + GA vs. GG) | 0.99 | 1.00 (0.70–1.44) |
GA | 69 (32.09%) | 135 (36.19%) | Recessive (AA vs. GA + GG) | 0.16 | 1.57 (0.84–2.96) |
AA | 23 (10.70%) | 26 (6.97%) | Over-dominant (GA vs. GG + AA) | 0.42 | 0.86 (0.59–1.25) |
Log-additive | 0.54 | 1.09 (0.83–1.44) |
Allele/ Genotype | LOAD (n = 215) | Controls (n = 373) | Genetic Model | Logistic Regression Analysis | |
---|---|---|---|---|---|
p-Value | OR (95% CI) | ||||
Allele contrast (T vs. C) | 0.35 | 1.18 (0.83–1.66) | |||
C | 367 (85.35%) | 651 (87.27%) | Codominant (CT vs. CC) | 0.30 | 1.24 (0.83–1.87) |
T | 63 (14.65%) | 95 (12.73%) | Codominant (TT vs. CC) | 0.26 | 0.29 (0.03–2.90) |
CC | 153 (71.16%) | 282 (75.60%) | Dominant (TT + CT vs. CC) | 0.40 | 1.19 (0.79–1.78) |
CT | 61 (28.37%) | 87 (23.32%) | Recessive (TT vs. CT + CC) | 0.23 | 0.28 (0.03–2.75) |
TT | 1 (0.47%) | 4 (1.07%) | Over-dominant (CT vs. CC + TT) | 0.27 | 1.26 (0.84–1.89) |
Log-additive | 0.57 | 1.12 (0.76–1.63) |
rs243866-rs2285053 Haplotype | LOAD (n = 215) | Controls (n = 373) | Logistic Regression Analysis | |
---|---|---|---|---|
p-Value | OR (95% CI) | |||
G–C | 58.60% | 62.20% | reference | |
A–C | 26.74% | 25.07% | 0.46 | 1.11 (0.84–1.47) |
G–T | 14.65% | 12.73% | 0.49 | 1.15 (0.78–1.70) |
A–T | 0.00% | 0.00% | - | - |
MMP2 rs243866 A | APOE ε4 | LOAD (n = 215) | Controls (n = 373) | Logistic Regression Analysis | SF (p-Value) | |
---|---|---|---|---|---|---|
p-Value | OR (95% CI) | |||||
− | − | 68 (31.63%) | 171 (45.84%) | reference | 0.76 (0.48) | |
+ | − | 56 (26.05%) | 133 (35.65%) | 0.83 | 1.06 (0.69–1.62) | |
− | + | 55 (25.58%) | 41 (10.99%) | <0.0001 | 4.56 (2.67–7.79) | |
+ | + | 36 (16.74%) | 28 (7.51%) | <0.0001 | 3.68 (2.04–6.63) |
MMP2 rs2285053 T | APOE ε4 | LOAD (n = 215) | Controls (n = 373) | Logistic Regression Analysis | SF (p-Value) | |
---|---|---|---|---|---|---|
p-Value | OR (95% CI) | |||||
− | − | 88 (40.93%) | 230 (61.66%) | reference | 0.91 (0.83) | |
+ | − | 36 (16.74%) | 74 (19.84%) | 0.43 | 1.22 (0.75–1.96) | |
− | + | 65 (30.23%) | 52 (13.94%) | <0.0001 | 3.85 (2.43–6.10) | |
+ | + | 26 (12.09%) | 17 (4.56%) | <0.0001 | 4.27 (2.18–8.36) |
Phenotype | Patient Group | Genotypes | Best Model | p-Value | ||
---|---|---|---|---|---|---|
GG | GA | AA | ||||
AOO | Whole | 77.97 ± 6.01 | 76.13 ± 5.72 | 76.43 ± 7.90 | Dominant | 0.024 * |
APOE ε4 + | 76.57 ± 5.82 | 74.48 ± 5.07 | 76.45 ± 4.23 | Overdominant | 0.12 † | |
APOE ε4 − | 79.11 ± 5.97 | 77.07 ± 5.91 | 76.40 ± 10.89 | Dominant | 0.073 † | |
MoCA | Whole | 16.00 ± 6.17 | 14.41 ± 5.68 | 16.35 ± 5.38 | Overdominant | 0.073 ‡ |
APOE ε4 + | 16.46 ± 5.92 | 14.59 ± 5.56 | 14.25 ± 4.43 | Dominant | 0.18 $ | |
APOE ε4 − | 15.68 ± 6.36 | 14.31 ± 5.82 | 18.22 ± 5.70 | Overdominant | 0.14 $ |
Phenotype | Patient Group | Genotypes | Best Model | p-Value | ||
---|---|---|---|---|---|---|
CC | CT | TT | ||||
AOO | Whole | 76.85 ± 6.29 | 78.10 ± 5.84 | 78.00 ± 0.00 | Dominant | 0.18 * |
APOE ε4 + | 75.81 ± 5.44 | 76.32 ± 5.76 | 78.00 ± 0.00 | Dominant | 0.67 † | |
APOE ε4 − | 77.62 ± 6.79 | 79.37 ± 5.64 | - | Dominant | 0.18 † | |
MoCA | Whole | 15.49 ± 6.08 | 15.29 ± 5.62 | 23.00 ± 0.00 | Dominant | 0.96 ‡ |
APOE ε4 + | 15.59 ± 5.60 | 15.24 ± 5.92 | 23.00 ± 0.00 | Dominant | 0.95 $ | |
APOE ε4 − | 15.42 ± 6.44 | 15.31 ± 5.56 | - | Dominant | 0.95 $ |
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Ocenasova, A.; Shawkatova, I.; Javor, J.; Parnicka, Z.; Minarik, G.; Kralova, M.; Kiralyova, I.; Mikolaskova, I.; Durmanova, V. MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population. Life 2023, 13, 882. https://doi.org/10.3390/life13040882
Ocenasova A, Shawkatova I, Javor J, Parnicka Z, Minarik G, Kralova M, Kiralyova I, Mikolaskova I, Durmanova V. MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population. Life. 2023; 13(4):882. https://doi.org/10.3390/life13040882
Chicago/Turabian StyleOcenasova, Agata, Ivana Shawkatova, Juraj Javor, Zuzana Parnicka, Gabriel Minarik, Maria Kralova, Iliana Kiralyova, Iveta Mikolaskova, and Vladimira Durmanova. 2023. "MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population" Life 13, no. 4: 882. https://doi.org/10.3390/life13040882