Table 4 Genes and variants identified from the gene-score analysis step for osteoporosis BRONJ cases
No. | Genes | Variants | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hugo | Gene name | Gene score | p value | Chr | Pos | Ref/Alt | SIFT/CADD | AF | p value | ||
Case | Control | Case/Control | |||||||||
1 | CDC27 | Cell division cycle 27 | 0.46 ± 0.49 | 0.97 ± 0.18 | < 0.001 | chr17 | 45,214,654 | C/T | 0/20.6 | 0.22/0.01 | 0.000 |
2 | DFFA | DNA fragmentation factor subunit alpha | 0.80 ± 0.41 | 0.94 ± 0.23 | 0.022 | chr1 | 10,521,569 | C/T | 0/7.665 | 0.10/0.03 | 0.042 |
3 | FAM193A | Family with sequence similarity 193 member A | 0.79 ± 0.38 | 0.95 ± 0.18 | 0.009 | chr4 | 2,632,766 | C/T | 0.02/12.71 | 0.08/0.01 | 0.008 |
4 | TNRC18 | Trinucleotide repeat containing 18 | 0.73 ± 0.24 | 0.89 ± 0.22 | < 0.001 | chr7 | 5,427,467 | G/A | 0.01/16.78 | 0.08/0.01 | 0.008 |
5 | VEGFA | Vascular endothelial growth factor A | 0.88 ± 0.33 | 0.98 ± 0.13 | 0.033 | chr6 | 43,752,346 | C/A | 0/14.64 | 0.06/0.01 | 0.033 |