Table 2.
Characterization of all polymorphisms in NLRP3 and CASP1, included in analysis of study.
| Gene | CHR | SNP | A1 | A2 | MAF | FUNCTION | RegulomeDB |
|---|---|---|---|---|---|---|---|
| NLRP3 | 1 | rs56383829 | T | C | 0.49 | intron variant | 5 |
| NLRP3 | 1 | rs3806265 | C | T | 0.47 | intron variant | 5 |
| NLRP3 | 1 | rs10159239 | G | A | 0.39 | intron variant | 5 |
| NLRP3 | 1 | rs12137901 | C | T | 0.30 | intron variant, upstream variant 2 KB | 4 |
| NLRP3 | 1 | rs12130711 | T | C | 0.28 | intron variant | 1f |
| NLRP3 | 1 | rs4925659 | A | G | 0.28 | intron variant | 4 |
| NLRP3 | 1 | rs10925023 | T | G | 0.28 | intron variant | 7 |
| NLRP3 | 1 | rs200927356 | G | A | 0.27 | intron variant | 5 |
| NLRP3 | 1 | rs72553860 | G | A | 0.26 | intron variant, upstream variant 2 KB | 4 |
| NLRP3 | 1 | rs4925650 | A | G | 0.26 | intron variant | 7 |
| NLRP3 | 1 | rs4378247 | C | T | 0.24 | intron variant | 3a |
| NLRP3 | 1 | rs12565738 | T | C | 0.24 | intron variant | 5 |
| NLRP3 | 1 | rs4925654 | A | G | 0.21 | intron variant | 6 |
| NLRP3 | 1 | rs12728998 | T | C | 0.18 | intron variant | 7 |
| NLRP3 | 1 | rs7525979 | T | C | 0.15 | synonymous codon | 5 |
| NLRP3 | 1 | rs79796552 | G | A | 0.14 | intron variant | 6 |
| NLRP3 | 1 | rs4925648 | T | C | 0.13 | intron variant, upstream variant 2 KB | 7 |
| NLRP3 | 1 | rs10925022 | G | A | 0.12 | intron variant | 5 |
| NLRP3 | 1 | rs36021952 | A | G | 0.11 | intron variant | 3a |
| NLRP3 | 1 | rs72771992 | G | T | 0.11 | utr variant 5 prime | 7 |
| NLRP3 | 1 | rs74154644 | T | C | 0.11 | intron variant | 5 |
| NLRP3 | 1 | rs45624634 | A | C | 0.11 | intron variant | 4 |
| NLRP3 | 1 | rs4925651 | T | G | 0.10 | intron variant | 5 |
| NLRP3 | 1 | rs4925543 | A | G | 0.10 | synonymous codon | 5 |
| NLRP3 | 1 | rs7524914 | C | T | 0.09 | intron variant | 6 |
| NLRP3 | 1 | rs73136263 | T | G | 0.03 | utr variant 5 prime | 7 |
| NLRP3 | 1 | rs55914518 | A | G | 0.02 | intron variant | 6 |
| NLRP3 | 1 | rs35433972 | T | C | 0.02 | intron variant | 5 |
| NLRP3 | 1 | rs116096527 | A | G | 0.01 | intron variant | 5 |
| CASP1 | 11 | rs79180143 | A | C | 0.28 | intron variant, utr variant 3 prime | 7 |
| CASP1 | 11 | rs531542 | A | G | 0.14 | intron variant | 3a |
| CASP1 | 11 | rs580253 | A | G | 0.14 | intron variant, synonymous codon | 7 |
| CASP1 | 11 | rs7925706 | T | C | 0.13 | intron variant, utr variant 5 prime | 4 |
| CASP1 | 11 | rs556205 | G | T | 0.08 | intron variant | 6 |
| CASP1 | 11 | rs75775137 | G | A | 0.06 | intron variant | 5 |
CHR, chromosome; SNP, single nucleotide polymorphism; A1, minor allele; A2, ancestral allele; MAF, minor allele frequency; utr, untranslated region.