Table 5.
Carrier frequencies and Fisher’s exact test results of variants on the drug metabolism-related genes
| Gene Symbol | rsID | Variant deleteriousness score | Case, n = 13 | Control, n = 30 | EAS, n = 504 | T1GP, n = 2504 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | CADD | PolyPhen2 | Freq | P | Freq | P | Freq | P | |||
| CYP1A1 | rs1048943 | 0.01 | 21.9 | 0.49 | 9 (69%) | 10 (33%) | 0.0457 | 221 (44%) | 0.0902 | 568 (23%) | 0.0005 |
| rs143070677 | 0.03 | 24.4 | 0.51 | 1 (8%) | 1 (3%) | 0.5183 | 1 (0.2%) | 0.0497 | 1 (0.04%) | 0.0103 | |
| rs4646422 | 0.08 | 24.0 | 0.19 | 4 (31%) | 12 (40%) | 0.7349 | 111 (22%) | 0.4986 | 116 (5%) | 0.0025 | |
| CYP8B1 | rs202192572 | 0.04 | 23.9 | 0.05 | 1 (8%) | 0 (0%) | 0.3023 | 5 (1%) | 0.1423 | 5 (0.2%) | 0.0306 |
| SERPINA7 | rs1804495 | 0.01 | 23.8 | 0.46 | 9 (69%) | 3 (10%) | 0.0002 | 179 (36%) | 0.0180 | 623 (25%) | 0.0010 |
Freq carrier frequency, SIFT Sorting Intolerant from Tolerant, CADD Combined Annotation Dependent Depletion, PolyPhen2 Polymorphism Phenotyping v2.2.2, EAS East Asian in the 1000 Genomes Project, T1GP The 1000 Genomes Project, CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1, CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1, SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7