Appendix Table A2.
Previously Reported Single Nucleotide Polymorphism Associations Based on Systemic Sclerosis Patients Versus Healthy Controls
| SNP | Alleles | Cases alleles n (%) | Controls alleles n (%) | OR (95% CI) | p | Cases/controls | Population | References |
|---|---|---|---|---|---|---|---|---|
| rs4898a | T | 269 (65.29) | 180 (57.69) | 1 | — | 206/156 | Italian | Skarmoutsou et al. (2012) |
| C | 143 (34.71) | 132 (42.31) | 0.72 (0.53–0.98) | 0.04 | ||||
| rs344781 | G | 210 (27) | 180 (23) | 1.29 (1.03–1.63) | 0.03 | 388/391 | Italian (Caucasian) | Manetti et al. (2011) |
| A | 566 (73) | 602 (77) | — | |||||
| G | 366 (25) | 256 (21) | 1.22 (1.02–1.47) | 0.03 | 732/607 | Italian and French (Caucasian) | ||
| A | 1098 (75) | 959 (79) | — | — | ||||
| rs1126579 | T | 287 (56) | 341 (44) | NA | 0.002 | 256/388 | United Kingdom (Caucasian) | Renzoni et al. (2000) |
| C | 225 (44) | 435 (56) | — | |||||
| rs1800890 | T vs. A | — | — | 0.75 (0.61–0.93) | NA | 382/1125 | Meta-analysis (4 studies) | Peng et al. (2012b) |
| rs1800896 | G | 45 (50) | 78 (26) | 2.85 (1.74–4.63) | <0.000 | 45/150 | Turkish | Ates et al. (2008) |
| A | 45 (50) | 222 (74) | — | — | ||||
| rs3117230 | G | 48 (18) | 102 (9.2) | 2.20 (1.50–3.22) | 3.52E-05 | 133/557 | Discovery, Koreans | Zhou et al. (2009) |
| A | 218 (82) | 1012 (90.8) | — | |||||
| rs3128930 | A | 90 (34) | 167 (15) | 3.0 (2.20–4.10) | 8.16E-13 | 133/557 | Discovery, Koreans | Zhou et al. (2009) |
| G | 176 (66) | 947 (85) | — | — | ||||
| rs3128965 | A | 48 (18) | 104 (9.3) | 2.18 (1.49–3.18) | 4.47E-05 | 133/557 | Discovery, Koreans | Zhou et al. (2009) |
| G | 218 (82) | 1114 (90.7) | — | — | ||||
| rs6918698 | G | 435 (55) | 241 (45) | 1.5 (1.2–1.9) | <0.001 | 395/269 | Asian (Japanese) | Kawaguchi et al. (2009) |
| C | 355 (45) | 297 (55) | ||||||
| rs7574865 | T | 218 (27.1) | 220 (22.9) | 1.26 (1.01–1.56) | 0.039 | 402/481 | Discovery, French | Dieude et al. (2009) |
| G | 586 (72.9) | 742 (77.1) | — | — | ||||
| T | 212 (26.6) | 206 (21.3) | 1.35 (1.07–1.66) | 0.0099 | 399/483 | Replication, French | ||
| G | 586 (73.4) | 760 (78.7) | — | — | ||||
| T | 429 (26.8) | 426 (22.1) | 1.29 (1.11–1.51) | 0.001 | 801/964 | Combination, French | ||
| G | 1173 (73.2) | 1502 (77.9) | — | — | ||||
| T | 458 (26) | 213 (21) | 1.31 (NA) | 0.01 | 880/507 | North American | Gourh et al. (2009) | |
| G | 1302 (74) | 801 (79) | — | — | ||||
| T | 757 (27) | 315 (22.5) | 1.26 (1.1–1.5) | 0.004 | 1402/698 | North American | ||
| G | 2047 (73) | 1082 (77.5) | — | — | ||||
| T | 231 (41) | 401 (34) | 1.35 (1.10–1.66) | 0.023 | 282/590 | Japanese | Tsuchiya et al. (2009) | |
| G | 333 (59) | 779 (66) | — | — | ||||
| T | 307 (27.2) | 778 (21.9) | 1.33 (1.14–1.55) | 2.50E-04 | 564/1776 | Discovery, French | Allanore et al. (2011) | |
| G | 821 (72.8) | 2774 (78.1) | ||||||
| T | 976 (29) | 1727 (22) | 1.40 (1.26–1.56 | 1.9E-10 | 1682/3926 | Replication (French, Italians, German & Eastern European) | ||
| G | 2388 (71) | 6124 (78) | — | — | ||||
| T vs. G | — | — | 0.72 (0.66–0.79) | 0.00 | — | Meta-analysis (8 studies) | Peng et al. (2012a) | |
| T vs. G | — | — | 1.34 (1.25–1.44) | <0.00001 | — | Meta-analysis (11 studies) | Liang et al. (2012) | |
| T allele | — | — | 1.38 (1.27–1.50) | <1.44E-14 | — | Meta-analysis (8 studies) | Zheng et al. (2013) | |
| G | 565 (62.4) | 744 (69.7) | 0.72 (0.48–1.09) | 0.1 | 453/534 | Han Chinese | Yi et al. (2013) | |
| T | 341 (37.6) | 324 (30.3) | 1.58 (1.22–2.05) | 0.00041 | ||||
| T | 278 (28.6) | 2006 (22.5) | 1.35 | 0.00012 | 486/4458 | Discovery, Australian SSc, British controls | Zochling et al. (2014) | |
| G | 694 (71.40) | 6909 (77.5) | — | — | ||||
| T | NA | NA | NA | 5.7 E-5 | 1319/6396 | Combination, Australian SSc, British controls | ||
| G | NA | NA | — | — | ||||
| T vs. G | — | — | 1.37 (1.27–1.48) | <0.00001 | — | Meta-analysis (4 studies) | Xu et al. (2016) |
a
Calculations for this SNP were performed in females as it is located in X-chromosome.
CI, confidence intervals; OR, odds ratio; SSc, systemic sclerosis.