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. 2020 Oct 1;11:542210. doi: 10.3389/fimmu.2020.542210

Table 1.

Polymorphisms on immune-related genes in Brazilian patients with PCM.

Structure (gene) Mutation (rs) Main results References
CTLA-4 (CTLA4) −318 C/T and +49 A/Ga • No differences between patients and controls (48)
DC-SIGN (DCSIGN) rs4804803 • Genotype DCSIGN-GG on patients with oral PCM (p = 0.032) (49)
FCγ-RIIa (FCGR2A) rs1801274 • No differences between patients and controls (49)
HLA (HLA) HLA-DRB1 and HLA-DQB1 allelesa HLA-DRB1*11 allele associated with UC form of PCM (p = 0.039) (26)
IFN-γ (IFNG) +874 T/Aa • No differences between patients and controls (35)
+874 T/A (rs2430561) • No differences between patients and controls (31)
• No differences between clinical forms of PCM
IL-4 (IL4) −590 T/Ca • Patients with C-allele produce more IL-4 than those with T-allele (p < 0.05) (35)
• No differences between patients and controls (30)
Intron-3 microsatellite RP1/RP2a • Genotypes RP2/RP2 on patients and RP1/RP1 on controls (with low IL-4 expression): p = 0.0042 (30)
IL-10 (IL10) −1082 G/Aa • Genotypes IL10-GG on patients and IL10-AA on controls (p = 0.0218) (34)
IL-12p40 (IL12B) +1188 A/C (rs3212227) • No differences between patients and controls (31)
• No differences between clinical forms of PCM
IL-12Rβ1 (IL12RB1) 230 T/C Leu77Phea • Inherited IL-12Rβ1 deficiency leading to acute form of PCM (29)
641 A/G (rs11575834) • No differences between patients and controls (31)
• Male patients: Genotype IL12RB1-AA on MC form and IL12RB1-AG on UC form (p = 0.048)
JAK1 rs11208534 • No differences between patients and controls (49)
TNF-α (TNFA) −308 G/Aa • No differences between patients and controls (34)
rs1800629 • No differences between patients and controls (49)
Vitamin D Receptor (VDR) rs7975232 • Genotype VDR-CC (p < 0.001) and C-allele (p = 0.027) on patients (49)
a

rs not informed or not applicable.