Table 1 |
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Genotype and allele distribution of CD226 rs763361 (chr:18, 65,682,622 bp), rs34794968 (chr:18; 65,682,006 bp), rs727088 (chr:18, 65,681,419 bp) genetic variants and pooled analysis. |
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|
Genotype, N (%) |
Allele test |
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|
|
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|
SNP |
Subgroup (N) |
1/1 |
1/2 |
2/2 |
MAF (%) |
PMH |
PFDR_BH |
OR [CI 95%] |
PBD |
|
|
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|
rs763361 |
Controls (n = 3811) |
906 (23.77) |
1841 (48.31) |
1064 (27.92) |
47.93 |
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|
SSc (n = 2023) |
480 (23.73) |
990 (48.94) |
553 (27.34) |
48.2 |
0.56 |
0.73 |
1.02 [0.95-1.10] |
0.56 |
|
|
lcSSc (n = 1397) |
332 (23.77) |
681 (48.75) |
384 (27.49) |
48.14 |
0.64 |
0.95 |
1.02 [0.94-1.11] |
0.8 |
|
|
dcSSc (n = 626) |
148 (23.64) |
309 (49.36) |
169 (27.00) |
48.32 |
0.6 |
0.94 |
1.03 [0.92-1.17] |
0.14 |
|
|
ACA+ (n = 797) |
176 (22.08) |
396 (49.69) |
225 (28.23) |
46.93 |
0.68 |
0.68 |
0.98 [0.88-1.09] |
0.85 |
|
|
ATA+ (n = 503) |
133 (26.44) |
239 (47.51) |
131 (26.04) |
50.2 |
0.22 |
0.28 |
1.09 [0.95-1.24] |
0.63 |
|
|
Fib+ (n = 729) |
176 (24.14) |
359 (49.25) |
194 (26.61) |
48.77 |
0.48 |
0.58 |
1.04 [0.93-1.17] |
0.5 |
|
|
|
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|
rs34794968 |
Controls (n = 3858) |
669 (17.34) |
1842 (47.74) |
1347 (34.91) |
41.21 |
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|
SSc (n = 2060) |
348 (16.89) |
978 (47.48) |
734 (35.63) |
40.63 |
0.73 |
0.73 |
0.99 [0.91-1.07] |
0.37 |
|
|
lcSSc (n = 1422) |
234 (16.46) |
685 (48.17) |
503 (35.37) |
40.54 |
0.74 |
0.95 |
0.99 [0.90-1.08] |
0.71 |
|
|
dcSSc (n = 638) |
114 (17.87) |
293 (45.92) |
231 (36.21) |
40.83 |
0.94 |
0.94 |
1.00 [0.88-1.12] |
0.05 |
|
|
ACA+ (n = 816) |
129 (15.81) |
390 (47.79) |
297 (36.40) |
39.71 |
0.35 |
0.68 |
0.95 [0.85-1.06] |
0.6 |
|
|
ATA+ (n = 518) |
100 (19.31) |
249 (48.07) |
169 (32.63) |
43.34 |
0.28 |
0.28 |
1.08 [0.94-1.23] |
0.38 |
|
|
Fib+ (n = 755) |
122 (16.16) |
362 (47.95) |
271 (35.89) |
40.13 |
0.58 |
0.58 |
0.97 [0.87-1.09] |
0.44 |
|
|
|
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|
rs727088 |
Controls (n = 3815) |
917 (24.04) |
1869 (48.99) |
1029 (26.97) |
48.53 |
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|
SSc (n = 2042) |
489 (23.95) |
1014 (49.66) |
539 (26.40) |
48.78 |
0.59 |
0.73 |
1.02 [0.95-1.10] |
0.86 |
|
|
lcSSc (n = 1409) |
336 (23.85) |
702 (49.82) |
371 (26.33) |
48.76 |
0.63 |
0.95 |
1.02 [0.94-1.11] |
0.66 |
|
|
dcSSc (n = 633) |
153 (24.17) |
312 (49.29) |
168 (26.54) |
48.82 |
0.71 |
0.94 |
1.02 [0.91-1.15] |
0.26 |
|
|
ACA+ (n = 814) |
178 (21.87) |
414 (50.86) |
222 (27.27) |
47.3 |
0.54 |
0.68 |
0.97 [0.87-1.08] |
0.56 |
|
|
ATA+ (n = 514) |
138 (26.85) |
250 (48.64) |
126 (24.51) |
51.17 |
0.14 |
0.28 |
1.10 [0.97-1.26] |
0.61 |
|
|
Fib+ (n = 739) |
185 (25.03) |
363 (49.12) |
191 (25.85) |
49.59 |
0.4 |
0.58 |
1.05 [0.94-1.17] |
0.86 |
|
|
|
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|
Controls are used as reference for all comparisons. ACA, anti-centromere antibodies; ATA, anti-topoisomerase antibodies; 95% CI, 95% confidence interval; dcSSc, diffuse cutaneous systemic sclerosis; Fib+, lung fibrosis positive SSc patients; lcSSc, limited cutaneous systemic sclerosis; MAF, minor allele frequency; NS, not significant; OR, odds ratio; PBD, Breslow-Day homogeneity test p-value; P FDR_BH, corrected P-value using Benjamini and Hochberg false discovery rate; PMH, allelic Mantel-Haenszel fixed effects model P-value; SSc, systemic sclerosis. |
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Bossini-Castillo et al. Arthritis Research & Therapy 2012 14:R85 doi:10.1186/ar3809 |
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