TABLE 3.
HLA associations with SSc disease and major autoantibody subgroups.
| Metanalysis | Cohort 1 | Cohort 2 | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATA + vs − | ||||||||||||||||||
| HLA allele | ATA− Prop.(Count) | ATA+ prop.(Count) | OR | p | ATA− Prop.(Count) | ATA+ prop.(Count) | OR | p | ATA− Prop.(Count) | ATA+ prop.(Count) | OR | p | ||||||
| DRB1*07:01 | 0.126 | (123/974) | 0.257 | (3406/13273) | 0.42 | 2.2 × 10−18 | 0.150 | (53/353) | 0.262 | (1737/6632) | 0.49 | 3.2 × 10−6 | 0.113 | (70/621) | 0.251 | (1669/6641) | 0.39 | 3.3 × 10−13 |
| DQA1*02:01 | 0.127 | (124/974) | 0.256 | (3397/13273) | 0.43 | 5.3 × 10−18 | 0.153 | (54/353) | 0.261 | (1733/6632) | 0.51 | 6.1 × 10−6 | 0.113 | (70/621) | 0.251 | (1664/6641) | 0.39 | 3.9 × 10−13 |
| DRB1*11:04 | 0.114 | (111/974) | 0.035 | (459/13273) | 2.76 | 6.5 × 10−18 | 0.076 | (27/353) | 0.035 | (230/6632) | 1.94 | 0.003 | 0.135 | (84/621) | 0.034 | (229/6641) | 3.26 | 1.6 × 10−16 |
| DQB1*02:02 | 0.080 | (78/974) | 0.186 | (2468/13273) | 0.38 | 5.0 × 10−16 | 0.096 | (34/353) | 0.193 | (1282/6632) | 0.44 | 6.5 × 10−6 | 0.071 | (44/621) | 0.179 | (1186/6641) | 0.35 | 4.2 × 10−11 |
| DRB4*01:01 | 0.094 | (92/974) | 0.188 | (2491/13273) | 0.45 | 1.2 × 10−12 | 0.113 | (40/353) | 0.194 | (1289/6632) | 0.52 | 0.0001 | 0.084 | (52/621) | 0.181 | (1202/6641) | 0.42 | 5.1 × 10−9 |
| B*44:03 | 0.038 | (37/974) | 0.105 | (1397/13273) | 0.34 | 2.8 × 10−10 | 0.054 | (19/353) | 0.110 | (728/6632) | 0.46 | 0.001 | 0.029 | (18/621) | 0.101 | (669/6641) | 0.28 | 1.6 × 10−7 |
| C*16:01 | 0.030 | (29/974) | 0.082 | (1090/13273) | 0.35 | 2.9 × 10−8 | 0.042 | (15/353) | 0.086 | (573/6632) | 0.46 | 0.004 | 0.023 | (14/621) | 0.078 | (517/6641) | 0.28 | 4.2 × 10−6 |
| Diffuse SSc vs. Control | ||||||||||||||||||
| HLA Allele | dcSSc Prop.(Count) | CO Prop.(Count) | OR | p | dcSSc Prop.(Count) | CO prop.(Count) | OR | p | dcSSc prop.(Count) | CO prop. Count) | OR | p | ||||||
| DPB1*13:01 | 0.108 | (51/474) | 0.033 | (444/13273) | 3.20 | 2.4 × 10−13 | 0.109 | (15/137) | 0.035 | (231/6632) | 3.02 | 0.0001 | 0.107 | (36/337) | 0.032 | (213/6641) | 3.41 | 1.9 × 10−10 |
| DRB1*11:04 | 0.131 | (62/474) | 0.035 | (459/13273) | 2.93 | 3.3 × 10−12 | 0.168 | (23/137) | 0.035 | (230/6632) | 3.47 | 1.9 × 10−6 | 0.116 | (39/337) | 0.034 | (229/6641) | 2.71 | 2.6 × 10−7 |
| Diffuse SSc vs. Limited SSc | ||||||||||||||||||
| HLA Allele | lcSSc Prop.(Count) | dcSSc prop.(Count) | OR | p | lcSSc prop.(Count) | dcSSc Prop.(Count) | OR | p | lcSSc prop.(Count) | dcSSc prop.(Count) | OR | p | ||||||
| DQB1*02:02 | 0.08 | (78/974) | 0.146 | (69/474) | 2.04 | 6.2 × 10−5 | 0.096 | (34/353) | 0.124 | (17/137) | 1.39 | 0.31 | 0.071 | (44/621) | 0.154 | (52/337) | 2.54 | 2.4 × 10−5 |
| DRB1*07:01 | 0.126 | (123/974) | 0.205 | (97/474) | 1.83 | 6.2 × 10−5 | 0.150 | (53/353) | 0.175 | (24/137) | 1.24 | 0.44 | 0.113 | (70/621) | 0.217 | (73/337) | 2.23 | 1.4 × 10−5 |
| DQA1*02:01 | 0.127 | (124/974) | 0.205 | (97/474) | 1.81 | 8.0 × 10−5 | 0.153 | (54/353) | 0.175 | (24/137) | 1.22 | 0.47 | 0.113 | (70/621) | 0.217 | (73/337) | 2.23 | 1.4 × 10−5 |
| ACA + vs. − | ||||||||||||||||||
| Allele | ACA− prop.(Count) | ACA + prop.(Count) | OR | P | ACA− prop.(Count) | ACA + prop.(Count) | OR | P | ACA− prop.(Count) | ACA + prop.(Count) | OR | P | ||||||
| DQA1*01:01 | 0.233 | (210/903) | 0.436 | (221/507) | 2.58 | 4.5 × 10−15 | 0.241 | (64/266) | 0.401 | (87/217) | 2.21 | 0.0001 | 0.229 | (146/637) | 0.462 | (134/290) | 2.99 | 1.2 × 10−12 |
| DQB1*05:01 | 0.204 | (184/903) | 0.379 | (192/507) | 2.39 | 3.2 × 10−12 | 0.214 | (57/266) | 0.35 | (76/217) | 2.02 | 0.0009 | 0.199 | (127/637) | 0.400 | (116/290) | 2.76 | 1.8 × 10−10 |
| DQA1*02:01 | 0.196 | (177/903) | 0.077 | (39/507) | 0.34 | 6.7 × 10−9 | 0.207 | (55/266) | 0.106 | (23/217) | 0.45 | 0.004 | 0.192 | (122/637) | 0.055 | (16/290) | 0.24 | 3.1 × 10−7 |
| DRB1*07:01 | 0.195 | (176/903) | 0.077 | (39/507) | 0.34 | 9.3 × 10−9 | 0.203 | (54/266) | 0.106 | (23/217) | 0.47 | 0.006 | 0.192 | (122/637) | 0.055 | (16/290) | 0.24 | 3.1 × 10−7 |
| DRB1*01:01 | 0.159 | (144/903) | 0.292 | (148/507) | 2.15 | 1.5 × 10−8 | 0.162 | (43/266) | 0.281 | (61/217) | 2.04 | 0.002 | 0.159 | (101/637) | 0.300 | (87/290) | 2.33 | 8.7 × 10−7 |
| DQB1*02:02 | 0.134 | (121/903) | 0.043 | (22/507) | 0.29 | 2.8 × 10−7 | 0.147 | (39/266) | 0.055 | (12/217) | 0.35 | 0.003 | 0.129 | (82/637) | 0.034 | (10/290) | 0.23 | 2.1 × 10−5 |
| ATA + vs. − | ||||||||||||||||||
| Allele | ATA− prop.(Count) | ATA + prop.(Count) | OR | p | ATA− prop.(Count) | ATA + prop.(Count) | OR | p | ATA− prop.(Count) | ATA + prop.(Count) | OR | p | ||||||
| DPB1*13:01 | 0.041 | (48/1170) | 0.250 | (60/240) | 7.85 | 9.3 × 10−22 | 0.035 | (14/404) | 0.228 | (18/79) | 8.54 | 1.2 × 10−7 | 0.044 | (34/766) | 0.261 | (42/161) | 8.39 | 6.8 × 10−16 |
| DRB1*11:04 | 0.083 | (97/1170) | 0.300 | (72/240) | 4.13 | 9.7 × 10−14 | 0.069 | (28/404) | 0.266 | (21/79) | 4.93 | 9.1 × 10−6 | 0.09 | (69/766) | 0.317 | (51/161) | 3.9 | 3.3 × 10−9 |
| DQA1*01:01 | 0.339 | (397/1170) | 0.133 | (32/240) | 0.30 | 2.4 × 10−9 | 0.347 | (140/404) | 0.114 | (9/79) | 0.23 | 0.0001 | 0.336 | (257/766) | 0.143 | (23/161) | 0.33 | 4.2 × 10−6 |
| DPA1*02:01 | 0.271 | (317/1170) | 0.454 | (109/240) | 2.33 | 1.0 × 10−8 | 0.260 | (105/404) | 0.519 | (41/79) | 3.26 | 5.9 × 10−6 | 0.277 | (212/766) | 0.422 | (68/161) | 2.17 | 2.8 × 10−5 |
| DRB1*15:01 | 0.203 | (237/1170) | 0.350 | (84/240) | 2.40 | 4.3 × 10−8 | 0.223 | (90/404) | 0.367 | (29/79) | 2.25 | 0.003 | 0.192 | (147/766) | 0.342 | (55/161) | 2.37 | 1.6 × 10−5 |
| DRB5*01:01 | 0.205 | (240/1170) | 0.354 | (85/240) | 2.38 | 5.0 × 10−8 | 0.223 | (90/404) | 0.367 | (29/79) | 2.25 | 0.003 | 0.196 | (150/766) | 0.348 | (56/161) | 2.33 | 1.8 × 10−5 |
| DQB1*06:02 | 0.197 | (231/1170) | 0.329 | (79/240) | 2.33 | 2.2 × 10−7 | 0.210 | (85/404) | 0.367 | (29/79) | 2.55 | 0.0008 | 0.191 | (146/766) | 0.311 | (50/161) | 2.11 | 0.0002 |
| ANoA + vs. − | ||||||||||||||||||
| Allele | ANoA− prop.(Count) | ANoA + prop.(Count) | OR | p | ANoA− prop.(Count) | ANoA + prop.(Count) | OR | p | ANoA− prop.(Count) | ANoA + prop.(Count) | OR | p | ||||||
| DQA1*01:01 | 0.340 | (359/1055) | 0.201 | (71/353) | 0.48 | 9.2 × 10−7 | 0.335 | (119/355) | 0.244 | (31/127) | 0.62 | 0.04 | 0.343 | (240/700) | 0.177 | (40/226) | 0.41 | 4.6 × 10−6 |
| DQA1*05:01 | 0.474 | (500/1055) | 0.626 | (221/353) | 1.84 | 1.6 × 10−6 | 0.473 | (168/355) | 0.622 | (79/127) | 1.84 | 0.005 | 0.474 | (332/700) | 0.628 | (142/226) | 1.83 | 0.0001 |
| DQB1*02:01 | 0.227 | (240/1055) | 0.337 | (119/353) | 1.88 | 4.7 × 10−6 | 0.262 | (93/355) | 0.339 | (43/127) | 1.47 | 0.09 | 0.21 | (147/700) | 0.336 | (76/226) | 2.21 | 6.4 × 10−6 |
| C*07:01 | 0.304 | (321/1055) | 0.433 | (153/353) | 1.78 | 5.8 × 10−6 | 0.332 | (118/355) | 0.457 | (58/127) | 1.69 | 0.01 | 0.29 | (203/700) | 0.42 | (95/226) | 1.86 | 0.0001 |
CO = control, OR = odds ratio, p = p-value, Prop. = proportion.