Table 2.
Pooled-analysis of the rs3130573 PSORS1C1 HLA-region genetic variant
| CHR | BP | SNP | 1/2 | Subgroup (N) | Genotype, N (%)
|
MAF N (%) | Allele test
|
||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1/1 | 1/2 | 2/2 | pMH* | OR (95% CI) | pBD | ||||||
| 6 | 31214247 | rs3130573 | G/A | Controls (n=7139) | 892 (12.49) | 3220 (45.10) | 3027 (42.40) | 5004 (35.05) | |||
| SSc (n=4130) | 574 (13.90) | 1953 (47.29) | 1603 (38.81) | 3101 (37.54) | 1.17E-05 | 1.14 (1.07 to 1.21) | 0.02 | ||||
| lcSSc (n=2575) | 350 (13.59) | 1221 (47.42) | 1004 (38.99) | 1921 (37.30) | 1.16E-03 | 1.12 (1.05 to 1.20) | 0.07 | ||||
| dcSSc (n=1187) | 177 (14.91) | 561 (47.26) | 449 (37.83) | 915 (38.54) | 3.09E-04 | 1.18 (1.08 to 1.29) | 0.07 | ||||
| ACA+ (n=1446) | 181 (12.52) | 666 (46.06) | 599 (41.42) | 1028 (35.55) | 0.28 | 1.05 (0.96 to 1.14) | 0.12 | ||||
| ACA− (n=2511) | 356 (15.07) | 1143 (48.37) | 864 (36.56) | 1855 (39.25) | 1.01E-07 | 1.21 (1.13 to 1.29) | 0.05 | ||||
| ATA+ (n=845) | 123 (14.56) | 411 (48.64) | 311 (36.80) | 657 (38.88) | 6.48E-03 | 1.16 (1.04 to 1.29) | 0.51 | ||||
| ATA− (n=3147) | 413 (13.92) | 1395 (47.00) | 1160 (39.08) | 2221 (37.42) | 1.03E-04 | 1.13 (1.07 to 1.21) | 0.03 | ||||
Controls are used as reference for all comparisons.
*
All p values have been calculated for the allelic model.
ACA±, anti-centromere autoantibody-positive/negative patients; ATA±, anti-topoisomerase autoantibody-positive/negative patients; BP, base pair; CHR, chromosome; CTRL, healthy controls; dcSSc, diffuse cutaneous systemic sclerosis; lcSSc, limited cutaneous systemic sclerosis; MAF, minor allele (A) frequency; pMH, Mantel–Haenszel test under fixed effect; pBD, homogeneity Breslow–Day test; 1/2, minor allele/major allele; SNP, single nucleotide polymorphism.