Table 2. Allele frequency distributions and possible phenotypical consequences of the single nucleotide polymorphisms in TLR-related genes.
| Gene | Chr | HGVS name (rs number) | Phenotype (refs) | A/a | 1000Genomes library | Donor | Recipient | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/A (%) | A/a (%) | a/a (%) | MAF (%) | A/A (%) | A/a (%) | a/a (%) | MAF (%) | A/A (%) | A/a (%) | a/a (%) | MAF (%) | |||||
| TLR1 | 4 | p.His305Leu (rs3923647) | GOF [24,25] LOF [26] | T/a | 95.4 | 4.2 | 0.4 | 2.5 | 95.1 | 4.7 | 0.2 | 2.6 | 84.3 | 11.6 | 4.1 | 9.5 |
| TLR1 | 4 | p.Asn248Ser (rs4833095) | LOF [25–27] | C/t | 53.7 | 36.6 | 9.7 | 28.0 | 54.3 | 38.1 | 7.6 | 25.9 | 50.3 | 39.0 | 10.7 | 30.0 |
| TLR2 | 4 | p.Arg753Gln (rs5743708) | LOF [28–30] | G/a | 95.2 | 4.8 | 0 | 2.4 | 89.7 | 10.1 | 0.2 | 5.1 | 80.8 | 19.1 | 0.1 | 9.6 |
| TLR3 | 4 | p.Leu412Phe (rs3775291) | LOF [31,32] GOF [33] | C/t | 44.7 | 45.7 | 9.5 | 32.4 | 49.0 | 44.6 | 6.4 | 28.7 | 52.3 | 41.2 | 6.5 | 27.1 |
| TLR4 | 9 | p.Asp299Gly (rs4986790) | LOF [34,35] | A/g | 89.3 | 10.1 | 0.6 | 5.7 | 89.3 | 10.6 | 0.2 | 5.4 | 88.7 | 11.0 | 0.2 | 5.8 |
| TLR4 | 9 | p.Thr399Ile (rs4986791) | LOF [34,35] | C/t | 89.1 | 10.3 | 0.1 | 5.3 | 89.1 | 10.9 | 0.1 | 5.5 | 88.3 | 11.5 | 0.2 | 6.0 |
| TLR5 | 1 | p.Arg392Ter (rs5744168) | LOF [36–38] | G/a | 88.1 | 11.7 | 0.2 | 6.1 | 86.5 | 13.4 | 0.1 | 7.1 | 84.2 | 15.2 | 0.6 | 8.2 |
| TLR5 | 1 | p.Phe616Leu (rs5744174) | GOF [39–41] | A/g | 34.8 | 48.5 | 16.7 | 41.0 | 30.6 | 51.0 | 18.4 | 42.6 | 32.4 | 49.8 | 17.8 | 44.6 |
| TLR6 | 4 | p.Ser249Pro (rs5743810) | GOF [24] | G/a | 35.8 | 46.7 | 17.5 | 40.9 | 35.3 | 48.0 | 16.7 | 41.0 | 39.5 | 44.0 | 16.5 | 38.6 |
| TLR7 | X | p.Gln11Leu (rs17900) | LOF [42,43] | A/t | 71.7 | 23.3 | 5.0 | 16.7 | 68.7 | 20.1 | 11.2 | 21.1 | 71.3 | 15.9 | 12.8 | 21.7 |
| TLR8 | X | p.Met1Val(rs3764880) | GOF [44,45] | A/g | 66.4 | 15.0 | 18.6 | 26.1 | 68.9 | 18.6 | 12.5 | 22.6 | 63.7 | 16.7 | 19.6 | 27.9 |
| SIGIRR | 11 | p.Gln312Arg (rs3210908) | ND | C/t | 60.8 | 34.2 | 5.0 | 22.1 | 51.2 | 47.0 | 1.8 | 25.4 | 38.3 | 49.2 | 12.5 | 37.1 |
Donor and recipient genotype are displayed as dominant (A/A), heterozygous (A/a) or recessive (a/a). Chr = chromosome, HGVS = Human Genome Variation Society LOF = loss of function, GOF = gain of function, ND = not determined, MAF = minor allele frequency.