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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]