High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. Whole Exome Sequencing
4.3. Gene Set Selection
4.4. Downloading of 1000G Data
4.5. Data Analysis and Statistics
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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GENE | Nº Variants | Alternative Allele Frequency (%) | FDR (p-Value) | ||
---|---|---|---|---|---|
Control OP | AFF | Allele | Genotype | ||
ACAN | 16 | 47 | 59 | 9. × 10−3 | 2.85 × 10−2 |
AKAP13 | 21 | 41 | 34 | 2.10 × 10−1 | 2.11 × 10−10 |
APC | 7 | 61 | 68 | 8.88 × 10−1 | 3.48 × 10−2 |
ARHGEF3 | 6 | 29 | 37 | 8.84 × 10−1 | 3.44 × 10−2 |
CYP2D6 | 10 | 20 | 27 | 4.20 × 10−1 | 1.29 × 10−5 |
NBN | 3 | 20 | 44 | 1.48 × 10−2 | 2.66 × 10−3 |
NOTCH2 | 7 | 23 | 32 | 4.89 × 10−1 | 3.44 × 10−2 |
P4HB | 3 | 19 | 26 | 1.00 | 2.91 × 10−2 |
PITX2 | 2 | 8 | 35 | 9.82 × 10−3 | 2.85 × 10−2 |
SPP1 | 3 | 37 | 44 | 1.00 | 2.85 × 10−2 |
SUCO | 5 | 23 | 42 | 9.82 × 10−3 | 3.31 × 10−2 |
UGT1A8 | 37 | 27 | 27 | 1.00 | 2.85 × 10−2 |
GENE | Nº Variants | Alternative Allele Frequency (%) | FDR (p-Value) | ||
---|---|---|---|---|---|
Control IBS | AFF | Allele | Genotype | ||
ACAN | 16 | 53 | 59 | 4.93 × 10−2 | 3.47 × 10−2 |
AKAP13 | 21 | 47 | 34 | 6.08 × 10−8 | 5.62 × 10−23 |
ARHGEF3 | 6 | 25 | 37 | 1.19 × 10−2 | 8.88 × 10−3 |
P4HB | 3 | 14 | 26 | 2.21 × 10−2 | 8.38 × 10−3 |
PITX2 | 2 | 18 | 35 | 2.21 × 10−2 | 3.47 × 10−2 |
SUCO | 5 | 29 | 42 | 1.19 × 10−2 | 8.88 × 10−3 |
UGT1A8 | 34 | 23 | 28 | 1.19 × 10−2 | 8.88 × 10−3 |
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del Real, Á.; Cruz, R.; Sañudo, C.; Pérez-Castrillón, J.L.; Pérez-Núñez, M.I.; Olmos, J.M.; Hernández, J.L.; García-Ibarbia, C.; Valero, C.; Riancho, J.A. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures. Int. J. Mol. Sci. 2024, 25, 2321. https://doi.org/10.3390/ijms25042321
del Real Á, Cruz R, Sañudo C, Pérez-Castrillón JL, Pérez-Núñez MI, Olmos JM, Hernández JL, García-Ibarbia C, Valero C, Riancho JA. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures. International Journal of Molecular Sciences. 2024; 25(4):2321. https://doi.org/10.3390/ijms25042321
Chicago/Turabian Styledel Real, Álvaro, Raquel Cruz, Carolina Sañudo, José L. Pérez-Castrillón, María I. Pérez-Núñez, Jose M. Olmos, José L. Hernández, Carmen García-Ibarbia, Carmen Valero, and Jose A. Riancho. 2024. "High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures" International Journal of Molecular Sciences 25, no. 4: 2321. https://doi.org/10.3390/ijms25042321