Table 3. Variants identified in NFKB1 by direct sequencing in 94 TRS cases and controls.
SNP | Region | Allele | Genotype | Effect | Risk Allele | RAF | F difference | |||
case (%) | control (%) | case | control | |||||||
rs28362491 | P | ATTG/- | ins/ins∶ins/-∶-/- | 24.4 ∶ 46.7 ∶ 28.9 | 31.7 ∶ 47.8 ∶ 20.5 | del | 0.522 | 0.444 | 0.078 | |
rs11940017 | P | T>C | TT∶TC∶CC | 85.9 ∶ 14.1 ∶ 0 | 95.7 ∶ 4.3 ∶ 0 | C | 0.071 | 0.022 | 0.049 | |
rs11944443 | p | A>G | AA∶AG∶GG | 85.9 ∶ 14.1 ∶ 0 | 95.7 ∶ 4.3 ∶ 0 | G | 0.071 | 0.022 | 0.049 | |
rs41477752 | I2 | T>- | TT∶T/-∶-/- | 87.0 ∶ 13.0 ∶ 0 | 95.6 ∶ 4.4 ∶ 0 | del | 0.065 | 0.022 | 0.043 | |
IVS2-60 A>G | I2 | A>G | AA∶AG∶GG | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | G | 0.005 | 0 | 0.005 | |
c.692 G>T | E8 | G>T | GG∶GT∶TT | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | R231L | T | 0.005 | 0 | 0.005 |
rs4648049 | I12 | C>T | CC∶CT∶TT | 86.2 ∶ 13.8 ∶ 0 | 95.5 ∶ 4.5 ∶ 0 | T | 0.069 | 0.022 | 0.047 | |
rs4648050 | I12 | T>C | TT∶TC∶CC | 25.5 ∶ 36.2 ∶ 38.3 | 27.0 ∶ 49.4 ∶ 23.6 | C | 0.564 | 0.483 | 0.081 | |
IVS12+21 C>T | I12 | C>T | CC∶CT∶TT | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | T | 0.005 | 0 | 0.005 | |
rs1020760 | I11 | G>C | GG∶GC∶CC | 42.1 ∶ 40.0 ∶ 17.9 | 24.7 ∶ 50.6 ∶ 24.7 | G | 0.621 | 0.5 | 0.121 | |
IVS11-56 T>C | I11 | T>C | TT∶TC∶CC | 97.9 ∶ 2.1 ∶ 0 | 98.9 ∶ 1.1 ∶ 0 | C | 0.011 | 0.006 | 0.005 | |
c.1116 G>A | E12 | G>A | GG∶GA∶AA | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | S372S | A | 0.005 | 0 | 0.005 |
IVS13+196 T>G | I13 | T>G | TT∶TG∶GG | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | G | 0.005 | 0 | 0.005 | |
c.1601 G>A | E15 | G>A | GG∶GA∶AA | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | R534H | A | 0.005 | 0 | 0.005 |
IVS15+12 C>G | I15 | C>G | CC∶CG∶GG | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | G | 0.005 | 0 | 0.005 | |
IVS15+40 G>A | I15 | G>A | GG∶GA∶AA | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | A | 0.005 | 0 | 0.005 | |
rs4648095 | I17 | T>C | TT∶TC∶CC | 81.1 ∶ 18.9 ∶ 0 | 93.6 ∶ 9.6 ∶ 0 | C | 0.095 | 0.032 | 0.063 | |
rs4648110 | I22 | T>A | TT∶TA∶AA | 92.6 ∶ 7.4 ∶ 0 | 87.1 ∶ 12.9 ∶ 0 | T | 0.963 | 0.935 | 0.028 | |
rs4648117 | I22 | C>T | CC∶CT∶TT | 80.6 ∶ 19.4 ∶ 0 | 94.3 ∶ 5.7 ∶ 0 | T | 0.097 | 0.028 | 0.069 | |
IVS22-23 C>T | I22 | C>T | CC∶CT∶TT | 97.8 ∶ 2.2 ∶ 0 | 100.0 ∶ 0 ∶ 0 | T | 0.011 | 0 | 0.011 | |
rs3817685 | I22 | G>C | GG∶GC∶CC | 32.6 ∶ 41.3 ∶ 26.1 | 20.5 ∶52.3 ∶ 27.3 | G | 0.533 | 0.466 | 0.067 | |
rs35795162 | I23 | -/A | -/-∶-/A∶AA | 77.4 ∶ 20.4 ∶ 2.2 | 90.9 ∶ 9.1 ∶ 0 | A | 0.124 | 0.045 | 0.079 | |
IVS23-44 G>A | I23 | G>A | GG∶GA∶AA | 98.9 ∶ 1.1 ∶ 0 | 100.0 ∶ 0 ∶ 0 | A | 0.005 | 0 | 0.005 |
Risk allele means the allele with higher frequency in schizophrenia as compared with controls;
RAF: risk allele frequency.
P: promoter, I : intron.