Table 4.
Genetic biomarkers of Kawasaki disease.
| Gene | Biological function | Study | Year and country | Ethnicity | Polymorphism | Conclusion | References |
|---|---|---|---|---|---|---|---|
| ITPKC | Calcium channel modulator and regulates calcium release from ER, Acts as negative regulator of T cell activation | Wang et al. | 2014, China | Asian | rs2720378, rs2069762 | Higher risk of developing KD | (56) |
| Peng et al. | 2012, China | Asian | rs2290692 | Higher risk of developing KD | (57) | ||
| Kou et al. | 2011, Taiwan | Asian | rs28493229 | Higher risk of developing KD and higher risk of CAAs | (58) | ||
| ORAI1 | Involved in calcium influx into T-cells and activation of the Ca2+/NFAT pathway, regulates immune system and inflammatory responses | Onouchi et al. | 2016, Japan | Asian | rs3741596 | Higher risk of developing KD | (59) |
| CD40 | Activates immune system and is involved in immune and inflammatory responses | Lou et al. | 2016, Japan | Asian | rs2736340, rs4813003, rs3818298 | Higher risk of developing KD | (60) |
| Cheng et al. | 2015, China | Asian | rs1801274 | Higher risk of developing KD | (61) | ||
| Onouchi et al. | 2012, Japan | Asian | rs1535045, rs4813003 | Higher risk of developing KD | (62) | ||
| BLK | Involved in signal transduction and phosphorylation of ITAM residues of Iga and Igb, Responsible for B cell activation | Lou et al. | 2015, China | Asian | rs2736340 | Higher risk of developing KD | (60) |
| Chang et al. | 2013, Taiwan | Asian | rs2736340 | Higher risk of developing KD | (63) | ||
| Lee et al. | 2012, Taiwan | Asian | rs2618476, rs2736340 | Higher risk of developing KD | (64) | ||
| FCGR2A | Involved in metabolism and turnover of circulating IgG, Required for phagocytosis and clearing of immune complexes | Duan et al. | 2014, China | Asian | rs1801274 | Higher risk of developing KD | (65) |
| Khor et al. | 2013, Singapore | Mixed | rs1801274 | Higher risk of developing KD | (66) | ||
| Yan et al. | 2013, China | Asian | rs1801274 | Higher risk of developing CAAs in KD | (67) | ||
| CASP3 | Involved in cell apoptosis, regulates cellular processes in T cells | Wang et al. | 2014, China | Asian | rs2069762, rs2720378 | Higher risk of developing KD | (68) |
| Onouchi et al. | 2010, Japan | Asian | rs72689236 | Higher risk of developing KD | (69) | ||
| Kou et al. | 2011, Taiwan | Asian | rs72689236 | Higher risk of developing KD | (70) | ||
| TGFβR2 | Regulation of gene transcription | Choi et al. | 2012, Korea | Asian | Higher risk of developing KD | (71) | |
| SMAD3 | Signal transducer and transcriptional modulator, involved in down-regulation of T-cells and cardiovascular remodeling | Kuo et al. | 2011, Taiwan | Asian | rs1438386 | Higher risk of developing KD, but not to CAAs | (72) |
| Peng et al. | 2016, China | Asian | rs1438386 | Higher risk of developing KD | (73) | ||
| ADAM17 | Required for activation of notch signaling pathway and processing | Peng et al. | 2016, China | Asian | rs6705408 | Higher risk of developing KD and development of CAAs | (73) |
| MMP-11 | Causes breakdown of extracellular matrix | Ban et al. | 2010 Korea | Asian | rs738792 | Higher risk of developing KD | (74) |