Table 1 Summary of studies associating inflammasome genetics and MS
From: Role of inflammasomes in multiple sclerosis and their potential as therapeutic targets
Gene | Alteration | Effect | Reference |
|---|---|---|---|
NLRP3 | ⇒ Upregulated in RRMS patients | Increased recruitment and priming of T cells | Imani et al. [25] |
⇒ Downregulated in healthy controls | Increased serum IL-18 concentrations | Soares et al. [29] | |
⇒ Gain of function mutation associated with increased severity | Degree of rarity associated with increased severity in sporadic and familial MS | Vidmar et al. [80] | |
⇒ Multiple rare variants | |||
NLRP1 | ⇒ Multiple rare variants | Degree of rarity associated with increased severity in sporadic and familial MS | Vidmar et al. [80] |
NLRC4 | ⇒ Protective intronic variants | Decreased serum IL-18 concentrations | Soares et al. [29] |
NLRP12 | ⇒ Rare exomic variant | Potential disruption of pro-inflammatory network | Vilarino-Guell et al. [62] |
CASP1 | ⇒ Upregulated in RRMS patients | May predict progression to RRMS from CIS | Hagman et al. [81] |
⇒ Multiple rare variants | Degree of rarity associated with increased severity in sporadic and familial MS | Vidmar et al. [80] | |
PYCARD | ⇒ Upregulated in RRMS patients | May predict progression to RRMS from CIS | Hagman et al. [81] |