TABLE 3.
Genetic variants associated with fungal infections found in the last 5 years using a systems genomics approach
| Gene | Polymorphism(s) | Chromosome location | Reported association | Functional validation/evidence | Reference |
|---|---|---|---|---|---|
| GOLM1 | rs11141235 | 9q21 | Increased candidemia susceptibility | cQTL locus: lower C. albicans-induced IL-6 production | 113 |
| IFIH1 | rs1990760, rs3747517 | 2q24.2 | Increased candidemia susceptibility | Reduced C. albicans-induced IL-10 in PMCs | 132 |
| MAP3K8 | rs1360119 | 10p11.23 | Increased candidemia susceptibility | Reduced IL-6, IL-8 and IFN-γ in serum of candidemia patients | 100 |
| SPTBN5 (eQTL of PLA2G4B) | rs8028958 | 15q15.1 | Increased candidemia susceptibility | Lower C. albicans-induced IL-6 and ROS in PBMCs | 133 |
| LY86 | rs9405943 | 6p25.1 | Increased candidemia susceptibility | Lower migration towards MCP-1 of monocytes with knockdown of LY86 | 136 |
| SIGLEC15 | rs2919643 | 18q21.1 | Increased RVVC susceptibility | Increased C. albicans-induced IL-17A, IL-22 and IFN-γ | 137 |
| MFHAS1 | rs139408032 | 8p23.1 | NAa | cQTL locus: higher M. circinelloides-induced FGF-2 production | 138 |
| FRMD4A | rs61836093 | 10p13 | NA | cQTL locus: higher C. albicans-induced FGF-2 production | 138 |
| CSF1 | rs1999713 | 1p13 | Decreased cryptococcosis susceptibility in HIV patients | Upregulation of CSF1 upon C. neoformans stimulation of human PBMCs; higher phagocytosis and killing of C. neoformans in PBMCs from HIV patients pretreated with M-CSF | 134 |
a
NA, not applicable.