Supplementary Table 1. Genotype and Allele Distribution of the NLRP1 Rs2670660 SNP In

Supplementary Table 1. Genotype and allele distribution of the NLRP1 rs2670660 SNP in SSc patients and controls in the French Caucasian population.

GG
(%) / GA
(%) / AA
(%) / G
(%) / P* / Padj / OR [ 95% CI ]
SSc
n = 857 / 21.6 / 47.0 / 31.4 / 45.1 / G
GG
GA
AA / 0.39
0.36
0.99 / 1.05 [0.93-1.21]
1.13 [0.87-1.47]
1.01 [0.81-1.24]
1 (ref)
dcSSc
n = 290 / 20.3 / 51.4 / 28.3 / 46.0 / G
GG
GA
AA / 0.32
0.38
0.22 / 1.01 [0.91-1.33]
1.18 [0.81-1.73]
1.21 [0.89-1.65]
1 (ref)
lcSSc
n = 527 / 22.4 / 45.0 / 32.6 / 44.9 / G
GG
GA
AA / 0.53
0.42
0.50 / 1.04 [0.90-1.22]
1.13 [0.84-1.52]
0.92 [0.72-1.17]
1 (ref)
ACA+ SSc
n = 315 / 21.9 / 46.7 / 31.4 / 45.2 / G
GG
GA
AA / 0.49
0.45
0.95 / 1.07 [0.88-1.27]
1.15 [0.80-1.64]
0.99 [0.74-1.33]
1 (ref)
ACA- SSc
n =473 / 21.4 / 48.2 / 30.4 / 45.4 / G
GG
GA
AA / 0.37
0.37
0.67 / 1.07 0.92-1.26
1.15 0.84-1.58
1.06 0.83-1.36
1 (ref)
Topo+ SSc
n = 215 / 26.1 / 47.9 / 26.0 / 50.0 / G
GG
GA
AA / 0.018
0.018
0.26 / 0.18
0.18 / 1.29 [1.05-1.59]
1.64 [1.09-2.49]
1.23 [0.96-1.75]
1 (ref)
Topo- SSc
n = 568 / 20.2 / 47.4 / 32.4 / 43.9 / G
GG
GA
AA / 0.90
0.86
0.84 / 1.01 0.87-1.17
1.03 0.76-1.38
0.98 0.77-1.24
1 (ref)
FA+ SSc
n = 334 / 24.3 / 50.0 / 25.7 / 49.3 / G
GG
GA
AA / 0.013
0.015
0.087 / 0.13
0.15 / 1.25 [1.05-1.49]
1.55 [1.09-2.21]
1.29 [0.96-1.75]
1 (ref)
FA- SSc
n = 469 / 20.3 / 45.2 / 34.3 / 42.6 / G
GG
GA
AA / 0.71
0.85
0.33 / 0.97 0.83-1.14
0.97 0.71-1.33
0.88 0.69-1.75
1 (ref)
Controls
n = 935 / 19.6 / 48.2 / 32.2 / 43.7
Allelic NLRP1 rs2670660 P-value conditional on rs8182352 P = 0.11 and P = 0.08
* By chi-square test or Fisher’s exact test.
P-value < 0.05 adjusted after Bonferroni’s correction for multiple comparisons.
 Conditional analysis which corresponds to the case control association test performed in the Topo + and FA+ subsets, respectively.
dcSSc: diffuse cutaneous subtype, lcSSc: limited cutaneous subtype
ACA+: anti-centromere positive, ACA -: anti-centromere negative, Topo+: anti-topoisomerase I positive, Topo-: anti-topoisomerase I negative FA+: SSc with fibrosing alveolitis, FA-: SSc without fibrosing alveolitis

Supplementary Table 2. Genotype and allele distribution of the NLRP1 rs6502867 SNP in SSc patients and controls in the French Caucasian population.

CC
(%) / CT
(%) / TT
(%) / C
(%) / P* / Padj / OR [ 95% CI ]
SSc
n = 870 / 7.9 / 36.2 / 55.9 / 26.0 / C
CC
CT
TT / 0.97
0.18
0.17 / 1.01 [0.86-1.16]
1.29 [0.89-1.88]
0.87 [0.72-1.06]
1 (ref)
dcSSc
n = 294 / 8.8 / 33.0 / 58.2 / 25.3 / C
CC
CT
TT / 0.77
0.19
0.07 / 0.97 [0.78-1.19]
1.38 [0.85-2.28]
0.77 [0.58-1.02]
1 (ref)
lcSSc
n = 527 / 7.1 / 38.8 / 54.1 / 26.5 / C
CC
CT
TT / 0.74
0.41
0.76 / 1.03 [0.87-1.22]
1.20 [0.78-1.86]
0.97 [0.77-1.21]
1 (ref)
ACA+ SSc
n = 315 / 7.8 / 38.9 / 53.3 / 27.3 / C
CC
CT
TT / 0.51
0.25
0.90 / 1.07 [0.87-1.31]
1.34 [0.81-2.22]
0.98 [0.75-1.28]
1 (ref)
ACA- SSc
n = 479 / 7.1 / 35.5 / 57.4 / 24.8 / C
CC
CT
TT / 0.52
0.60
0.13 / 0.94 [0.79-1.13]
1.13 [0.72-1.77]
0.83 [0.66-1.05]
1 (ref)
Topo+ SSc
n = 215 / 6.9 / 30.3 / 62.8 / 22.2 / C
CC
CT
TT / 0.09
0.99
0.008 / 0.08 / 0.81 [0.63-1.03]
0.99 [0.55-1.82]
0.65 [0.47-0.90]
1 (ref)
Topo- SSc
n = 576 / 7.6 / 39.2 / 53.2 / 27.3 / C
CC
CT
TT / 0.42
0.20
0.97 / 1.07 [0.91-1.26]
1.31 [0.86-1.99]
0.99 [0.80-1.24]
1 (ref)
FA+ SSc
n= 334 / 7.5 / 35.1 / 57.4 / 25.1 / C
CC
CT
TT / 0.65
0.47
0.15 / 0.96 [0.78-1.17]
1.19 [0.73-1.96]
0.82 [0.63-1.07]
1 (ref)
FA- SSc
n = 471 / 8.1 / 38.2 / 53.7 / 27.2 / C
CC
CT
TT / 0.49
0.16
0.73 / 1.07 [0.89-1.27]
1.37 [0.88-2.13]
0.96 [0.76-1.21]
1 (ref)
Controls
n = 946 / 5.9 / 40.1 / 54.0 / 25.9
* By chi-square test or Fisher’s exact test.
P-value < 0.05 adjusted after Bonferroni’s correction for multiple comparisons.
dcSSc: diffuse cutaneous subtype, lcSSc: limited cutaneous subtype
ACA+: anti-centromere positive, ACA -: anti-centromere negative, Topo+: anti-topoisomerase I positive, Topo-: anti-topoisomerase I negative FA+: SSc with fibrosing alveolitis, FA-: SSc without fibrosing alveolitis

Supplementary Table 3. Genotype and allele distribution of the NLRP1 rs12150220 SNP in SSc patients and controls in the French Caucasian population

TT
(%) / TA
(%) / AA
(%) / T
(%) / P* / Padj / OR [ 95% CI ]
SSc
n = 868 / 20.8 / 47.0 / 32.2 / 44.3 / T
TT
TA
AA / 0.70
0.56
0.44 / 1.03 [0.90-1.16]
1.08 [0.84-1.39]
0.92 [0.76-1.13]
1 (ref)
dcSSc
n = 293 / 18.3 / 44.5 / 37.2 / 40.5 / T
TT
TA
AA / 0.17
0.29
0.06 / 0.88 [0.73-1.06]
0.82 [0.57-1.18]
0.76 [0.57-1.01]
1 (ref)
lcSSc
n = 535 / 21.7 / 48.1 / 30.2 / 45.7 / T
TT
TA
AA / 0.25
0.21
0.93 / 1.09 [0.94-1.25]
1.20 [0.90-1.59]
1.01 [0.80-1.27]
1 (ref)
ACA+ SSc
n = 320 / 20.2 / 47.7 / 32.2 / 44.0 / T
TT
TA
AA / 0.88
0.79
0.65 / 1.01 [0.85-1.20]
1.05 [0.74-1.47]
0.94 [0.72-1.23]
1 (ref)
ACA- SSc
n = 477 / 21.0 / 46.1 / 32.9 / 44.1 / T
TT
TA
AA / 0.85
0.67
0.33 / 1.02 [0.87-1.18]
1.07 [0.79-1.44]
0.88 [0.69-1.13]
1 (ref)
Topo+ SSc
n= 215 / 21.2 / 45.1 / 33.7 / 43.7 / T
TT
TA
AA / 0.99
0.82
0.30 / 1.00 [0.82-1.22]
1.05 [0.71-1.55]
0.85 [0.62-1.21]
1 (ref)
Topo- SSc
n = 571 / 20.6 / 47.0 / 32.4 / 44.1 / T
TT
TA
AA / 0.83
0.69
0.46 / 1.02 [0.88-1.17]
1.06 [0.79-1.40]
0.92 [0.73-1.15]
1 (ref)
FA+ SSc
n= 343 / 22.4 / 44.4 / 33.24 / 44.6 / T
TT
TA
AA / 0.69
0.50
0.24 / 1.04 [0.87-1.23]
1.12 [0.80-1.58]
0.85 [0.64-1.12]
1 (ref)
FA- SSc
n = 470 / 19.7 / 48.6 / 31.7 / 44.0 / T
TT
TA
AA / 0.87
0.81
0.81 / 1.01 [0.87-1.17]
1.04 [0.77-1.40]
0.97 [0.77-1.23]
1 (ref)
Controls
n = 961 / 18.8 / 49.7 / 31.5 / 43.7
* By chi-square test or Fisher’s exact test.
P-value < 0.05 adjusted after Bonferroni’s correction for multiple comparisons.
dcSSc: diffuse cutaneous subtype, lcSSc: limited cutaneous subtype
ACA+: anti-centromere positive, ACA -: anti-centromere negative, Topo+: anti-topoisomerase I positive, Topo-: anti-topoisomerase I negative FA+: SSc with fibrosing alveolitis, FA-: SSc without fibrosing alveolitis

Supplementary Table 4. Genotype and allele distribution of the NLRP1 rs4790797 SNP in SSc patients and controls in the French Caucasian population.

AA
(%) / AG
(%) / GG
(%) / A
(%) / P* / Padj / OR [ 95% CI ]
SSc
n = 867 / 21.8 / 48.1 / 30.1 / 45.8 / A
AA
AG
GG / 0.48
0.46
0.90 / 1.05 [0.92-1.19]
1.10 [0.85-1.42]
1.01 [0.83-1.24]
1 (ref)
dcSSc
n = 290 / 19.6 / 46.7 / 33.7 / 42.9 / A
AA
AG
GG / 0.45
0.51
0.39 / 0.93 [0.78-1.12]
0.88 [0.61-1.27]
0.88 [0.66-1.18]
1 (ref)
lcSSc
n = 533 / 21.7 / 49.2 / 29.1 / 46.3 / A
AA
AG
GG / 0.38
0.39
0.55 / 1.07 [0.92-1.23]
1.13 [0.85-1.51]
1.07 [0.85-1.36]
1 (ref)
ACA+ SSc
n = 319 / 20.0 / 51.4 / 29.6 / 44.7 / A
AA
AG
GG / 0.99
0.88
0.46 / 0.99 [0.84-1.19]
0.97 [0.68-1.39]
1.10 [0.83-1.46]
1 (ref)
ACA- SSc
n = 478 / 22.2 / 46.9 / 30.9 / 45.7 / A
AA
AG
GG / 0.63
0.57
0.77 / 1.04 [0.92-1.21]
1.09 [0.81-1.47]
0.96 [0.75-1.23]
1 (ref)
Topo+ SSc
n= 217 / 23.2 / 47.3 / 29.5 / 46.8 / A
AA
AG
GG / 0.39
0.37
0.91 / 1.09 [0.89-1.33]
1.19 [0.81-1.77]
1.02 [0.73-1.42]
1 (ref)
Topo- SSc
n = 569 / 20.1 / 48.9 / 31.0 / 44.5 / A
AA
AG
GG / 0.91
0.91
0.99 / 0.99 [0.86-1.15]
0.98 [0.74-1.31]
1.01 [0.79-1.26]
1 (ref)
FA+ SSc
n= 340 / 23.5 / 45.3 / 31.2 / 46.2 / A
AA
AG
GG / 0.51
0.44
0.58 / 1.06 [0.89-1.26]
1.45 [0.81-1.61]
0.92 [0.69-1.23]
1 (ref)
FA- SSc
n = 468 / 19.7 / 50.4 / 29.9 / 44.9 / A
AA
AG
GG / 0.93
0.99
0.59 / 1.01 [0.87-1.17]
0.99 [0.74-1.36]
1.07 [0.84-1.37]
1 (ref)
Controls
n = 959 / 20.4 / 48.7 / 30.9 / 44.7
* By chi-square test or Fisher’s exact test.
P-value < 0.05 adjusted after Bonferroni’s correction for multiple comparisons.
dcSSc: diffuse cutaneous subtype, lcSSc: limited cutaneous subtype
ACA+: anti-centromere positive, ACA -: anti-centromere negative, Topo+: anti-topoisomerase I positive, Topo-: anti-topoisomerase I negative FA+: SSc with fibrosing alveolitis, FA-: SSc without fibrosing alveolitis