Table 2. TLR5 polymorphism genotype frequencies in cases and controls.
| No. of polymorphisms (frequency)
|
||||
|---|---|---|---|---|
| Base pair | Amino acid | Affected offspring | Unaffected siblings | Unaffected parents |
| 1174CC | 392RR | 187 (0.940) | 67 (0.893) | 257 (0.889) |
| 1174CT | 392R* | 12 (0.060) | 8 (0.107) | 30 (0.104) |
| 1174TT | 392** | 0 (0) | 0 (0) | 2 (0.007) |
| 1775AA | 592NN | 121 (0.742) | 51 (0.729) | 196 (0.737) |
| 1775AG | 592NS | 39 (0.239) | 18 (0.257) | 61 (0.229) |
| 1775GG | 592SS | 3 (0.018) | 1 (0.014) | 9 (0.034) |
| 1846TT | 616FF | 68 (0.407) | 29 (0.408) | 98 (0.364) |
| 1846TC | 616FL | 70 (0.419) | 33 (0.465) | 130 (0.483) |
| 1846CC | 616LL | 29 (0.174) | 9 (0.127) | 41 (0.152) |
| 2523AA | 841KK | 152 (0.813) | 64 (0.780) | 238 (0.799) |
| 2523AG | 841KK | 32 (0.171) | 18 (0.220) | 58 (0.196) |
| 2523GG | 841KK | 3 (0.016) | 0 (0) | 2 (0.007) |
TLR5 genotypes are presented for cases (SLE affected offspring) and controls (unaffected siblings and parents). Data are from families that had complete genotyping data available for both parents and the affected offspring.
*
, stop codon