Table 2.
Gene polymorphism and mutation in Keshan disease patient
| Gene name | Site | Change | Gene ID | Description | Location | Author |
|---|---|---|---|---|---|---|
| Gene polymorphism | ||||||
| HLA-DRB1 | 3123 | Major histocompatibility complex, class II, DR beta 1 | Chromosome 6, NC_000006.12 | |||
| DR15, DR4, DR9 | Up-regulated | XiaolinNiu | ||||
| DR7 | Down-regulated | Jin Wei | ||||
| DR15 | Exist genetic susceptibility | Yaping Wang | ||||
| GPX-1 | 24 404 | Glutathione peroxidase 1 | Chromosome 8, NC_005107.4 | |||
| 198 | Pro198Leu | Cong Lei | ||||
| Exon 474 | A higher mutation frequency | H.L. Wei | ||||
| SCN5A | Exon 12 | H558R polymorphism | 6331 | Sodium voltage-gated channel alpha subunit 5 | Chromosome 3, NC_000003.12 | Jiang S |
| Gene mutation | ||||||
| SCN5A | Exon28 | Exist genetic mutation | 6331 | Sodium voltage-gated channel alpha subunit 5 | Chromosome 3, NC_000003.12 | Shaung Han |