Table 3. Genetic features of 17 patients identified to have recurrent fever and multi-system inflammation without infectious or autoimmune evidence.
Genes | SNP ID | Coding annotations | Alleles (reference > risk) | Genotyping method | Genotype results* |
---|---|---|---|---|---|
MEFV | rs28940579 | V726A | A>G | TaqMan® assay | A/A |
rs28940578 | M694I | G>A | TaqMan® assay | G/G | |
rs28940580 | M680I | G > A/C | TaqMan® assay | G/G | |
rs3743930 | E148Q | G>C | TaqMan® assay | Failed | |
rs61752717 | M694V | A>G | RFLP | A/A | |
TNFRSF1A | rs4149584 | R92Q | G>A | TaqMan® assay | G/G |
rs34751757 | T90N | C>A | TaqMan® assay | C/C | |
rs4149637 | P46L | C>T | TaqMan® assay | C/C | |
NOD2/CARD15 | rs2066844 | R702W | C>T | TaqMan® assay | C/C |
rs2066845 | G908R | G>C | TaqMan® assay | G/G | |
rs2066847 | 3020InsC | -/C | RFLP | -/- |
*No polymorphism in any of the variants was found.