Table 3.
Best evidence synthesis of genetic markers
| Category | Marker | Good/fair quality studies | Poor quality studies | Evidence |
|---|---|---|---|---|
| HLA | Haplotype B*08:01-C*07 | 1x positive association [97] | Limited evidence of positive association | |
| Haplotype B*08-C*07-MICA*00801 | 1x positive association [98] | Moderate evidence of positive association | ||
| Haplotype B*18-C*07 | 1x positive association [99] | Limited evidence of positive association | ||
| Haplotype B*27-C*01 | 2x positive association [97, 99] | Moderate evidence of positive association | ||
| Haplotype B*27-C*02 | 3x positive association [97, 99, 100] | Moderate evidence of positive association | ||
| Haplotype B*27-C*02-MICA*00701/026 | 1x positive association [98] | Moderate evidence of positive association | ||
| Haplotype B*35-C*04-MICA*0201/020 | 1x negative association [98] | Moderate evidence of negative association | ||
| Haplotype B*37-C*06 | 1x negative association [97] | Limited evidence of negative association | ||
| Haplotype B*38-C*12 | 3x positive association [97, 99, 100] | Moderate evidence of positive association | ||
| Haplotype B*39:01-C*12 | 2x positive association [97, 100] | Moderate evidence of positive association | ||
| Haplotype B*57-C*06 | 2x negative association [97, 99] | Moderate evidence of negative association | ||
| Haplotype B*57-C*06-MICA*017 | 1x negative association [99] | Limited evidence of negative association | ||
| HLA-A*03 | 1x mixed results [101] | Conflicting evidence | ||
| HLA-B*08 | Conflicting evidence | |||
| HLA-B*13 |
1x mixed results [101] |
Conflicting evidence | ||
| HLA-B*18 |
1x positive association [97] 1x no association [100] |
Conflicting evidence | ||
| HLA-B*27 |
6x positive association [97, 99, 100, 103–105] 1x no association [102] |
Moderate evidence of positive association | ||
| HLA-B*37 |
1x negative association [97] 1x no association [102] |
Conflicting evidence | ||
| HLA-B*38 |
3x positive association [97, 99, 100] 1x no association [104] 1x mixed results [101] |
Conflicting evidence | ||
| HLA-B*39 |
1x positive association [100] 1x mixed results [97] |
Conflicting evidence | ||
| HLA-B*40 | 1x negative association [97] | Limited evidence of negative association | ||
| HLA-B*44 | 1x negative association [97] | Limited evidence of negative association | ||
| HLA-B*57 |
1x negative association [99] |
Moderate evidence of no association | ||
| HLA-B*70 | 1x mixed results [101] | Conflicting evidence | ||
| HLA-B amino acid position 45 Glu |
1x positive association [106] |
Conflicting evidence | ||
| HLA-B amino acid position 95 Leu | 1x positive association [102] | Limited evidence of positive association | ||
| HLA-B amino acid position 97 Arg |
1x mixed results [103] 1x no association [102] |
Conflicting evidence | ||
| HLA-C*01 |
1x positive association [99] |
Moderate evidence of no association | ||
| HLA-C*02 | Conflicting evidence | |||
| HLA-C*06 | 1x negative association [107] |
7x negative association [97, 99, 102–105, 108] 1x mixed results [101] |
Moderate evidence of negative association | |
| HLA-C*07 |
1x positive association [99] |
Conflicting evidence | ||
| HLA-C*08 | 1x negative association [105] | Limited evidence of negative association | ||
| HLA-C*12 |
1x positive association [100] 2x no association [99] |
Conflicting evidence | ||
| HLA-C amino acid position 305 Ala | 1x positive association [102] | Limited evidence of positive association | ||
| HLA-C rs10484554 | 1x positive association [110] | Limited evidence of positive association | ||
| HLA-C rs12191877 | 1x negative association [111] | Limited evidence of negative association | ||
| HLA-DQB1*02 |
1x mixed results [101] 1x no association [102] |
Conflicting evidence | ||
| HLA-DRB1*03 | 2x no association [101, 102] | Moderate evidence of no association | ||
| HLA-DR*04 | 1x positive association [101] | Limited evidence of positive association | ||
| HLA-DR*07 | 1x negative association [105] | Limited evidence of negative association | ||
| HLA-DR*11 | 1x mixed results [101] | Conflicting evidence | ||
| Non-HLA | ADAMTS9-MAG1 deletion | 1x positive association [112] | Limited evidence of positive association | |
| CCR2 rs1799864 | 1x positive association [113] | Limited evidence of positive association | ||
| IL1RN rs397211 | 2x no association [111, 114] | Moderate evidence of no association | ||
| IL12B rs2082412 | 2x negative association [111, 114] | Moderate evidence of negative association | ||
| IL12B rs3212227 | 1x no association [115] | 1x no association [109] | Moderate evidence of no association | |
| IL12B rs6887695 | 1x no association [115] | 1x no association [109] | Moderate evidence of no association | |
| IL13 rs1800925 | 1x positive association [116] | 1x positive association [117] | Moderate evidence of positive association | |
| IL13 rs20541 |
2x positive association [114, 117] 1x not associated [111] |
Conflicting evidence | ||
| IL13 rs848 | 1x positive association [116] | Moderate evidence of positive association | ||
| IL17E rs79877597 | 1x positive association [118] | Limited evidence of positive association | ||
| IL23A rs2066807 | 2x not associated [111, 114] | Moderate evidence of no association | ||
| IL23R rs11209026 | 1x no association [115] | 1x no association [109] | Moderate evidence of no association | |
| IL23R rs2201841 |
1x negative association [111] 1x not associated [114] |
Conflicting evidence | ||
| KIR2DS1 pos/C2 neg | 1x positive association [119] | Limited evidence of positive association | ||
| LOC100505817 rs4891505 | 1x positive association [120] | Limited evidence of positive association | ||
| MICA*00701/026 | 1x positive association [98] | Moderate evidence of positive association | ||
| MICA*00801 | 1x positive association [98] | Moderate evidence of positive association | ||
| MICA*016 | 1x negative association [98] | Moderate evidence of negative association | ||
| NFKBIA rs7152376 | 1x positive association [107] | Moderate evidence of positive association | ||
| PTPN22 rs2476601 | 1x positive association [121] | Limited evidence of positive association | ||
| TNFa-238 | 2x not associated [109, 122] | Moderate evidence of no association | ||
| TNFa-308 | 2x not associated [109, 122] | Moderate evidence of no association | ||
| TNFa-857 | 1x positive association [109] | Limited evidence of positive association | ||
| TNFacd haplotype a6c1d3 | 1x positive association [123] | Limited evidence of positive association | ||
| TNFAIP3 rs610604 | 2x not associated [111, 114] | Moderate evidence of no association | ||
| TNIP rs17728338 | 2x not associated [111, 114] | Moderate evidence of no association | ||
| TRAF3IP2 rs240993 | 1x not associated [114] | Limited evidence of no association | ||
| TRAF3IP2 rs458017 | 1x not associated [110] | Limited evidence of no association | ||
| TSC1 rs1076160 | 2x not associated [111, 114] | Moderate evidence of no association | ||
| ZNF816A | 1x negative association [114] | Limited evidence of negative association |
A positive association is defined as a higher risk of PsA when the marker is present/increased/higher. A negative association is defined as a lower risk of PsA when the marker is present/increased/higher.
ADAMTS a disintegrin and metalloproteinase with thrombospondin motifs, Arg arginine, CCR C-C motif receptor, Glu glutamic acid, HLA human leukocyte antigen, IL interleukin, IL1RN IL-1 receptor antagonist, IL23R IL-23 receptor, KIR killer-cell immunoglobulin-like receptor, MAGI membrane-associated guanylate kinase, MICA MHC class I polypeptide-related sequence A, PTPN22 protein tyrosine phosphatase non-receptor type 22, TNF tumor necrosis factor, TNFAIP TNF alpha-induced protein, TNIP TNFAIP3-interacting protein, TRAF TNF receptor-associated factor, TRAF3IP TRAF3-interacting protein, TSC1 tuberous sclerosis 1, ZNF zinc finger protein