Introduction
Methods
Subjects
Selection of SNPs
Genotyping
Statistical analysis
Results
The characteristics of subjects
Characteristic | Patients | Controls |
---|---|---|
Number of subjects (DM/PM) | 851 (535/310) | 968 |
Female ratio (%) | 74.5 | 83.7 |
Average age | 45.6 ± 14.9 | 43.4 ± 12.8 |
DM with ILD, No./total (%) | 308/541 (56.9) | – |
PM with ILD, No./total (%) | 171/310 (55.2) | – |
Association of the six SNPs with PM/DM in the Han population
SNPs | Groups | Allele (%) | OR (95 % CI) |
P
|
P
c
| Genotype (%) |
χ
2
|
P
|
P
c
| |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
C | T | CC | CT | TT | ||||||||
rs2736340 | PM | 123 (20.2) | 487 (79.8) | 0.71 (0.57–0.88) | 2.24 × 10−3
|
0.013
| 11 (3.6) | 101 (33.1) | 193 (63.3) | 9.41 | 9.03 × 10−3
| 0.054 |
DM | 239 (22.5) | 825 (77.5) | 0.81 (0.68–0.97) | 0.020 | 0.120 | 30 (5.6) | 179 (33.7) | 323 (60.7) | 5.40 | 0.067 | 0.402 | |
PM + DM | 362 (21.6) | 1312 (78.4) | 0.77 (0.66–0.90) | 1.08 × 10−3
|
6.48 × 10
−3
| 31 (3.7) | 280 (33.9) | 516 (62.4) | 10.5 | 5.28 × 10−3
|
0.032
| |
Controls | 508 (26.3) | 1424 (73.7) | 70 (7.2) | 368 (38.1) | 528 (54.7) | |||||||
T | C | TT | TC | CC | ||||||||
rs7812879 | PM | 105 (17.3) | 503 (82.7) | 0.72 (0.57–0.91) | 6.74 × 10−3
|
0.034
| 8 (2.6) | 89 (29.3) | 207 (68.1) | 7.54 | 0.023 | 0.138 |
DM | 202 (19.0) | 860 (81.0) | 0.81 (0.67–0.98) | 0.029 | 0.174 | 25 (4.7) | 152 (28.6) | 354 (66.7) | 4.99 | 0.082 | 0.492 | |
PM + DM | 307 (18.4) | 1363 (81.6) | 0.78 (0.66–0.92) | 2.79 × 10−3
|
0.017
| 33 (4.0) | 241 (28.8) | 561 (67.2) | 8.61 | 0.014 | 0.084 | |
Controls | 434 (22.4) | 1502 (77.6) | 55 (5.7) | 324 (33.5) | 589 (60.8) | |||||||
G | A | GG | GA | AA | ||||||||
rs13277113 | PM | 137 (22.5) | 473 (77.5) | 0.75 (0.60–0.93) | 7.77 × 10−3
|
0.047
| 14 (4.6) | 109 (35.7) | 182 (59.7) | 7.23 | 0.027 | 0.162 |
DM | 252 (23.9) | 804 (76.1) | 0.81 (0.68–0.96) | 0.016 | 0.096 | 35 (6.6) | 182 (34.5) | 311 (58.9) | 6.06 | 0.048 | 0.288 | |
PM + DM | 389 (23.3) | 1277 (76.7) | 0.79 (0.68–0.91) | 1.77 × 10−3
|
0.011
| 49 (5.9) | 291 (34.9) | 493 (59.2) | 9.58 | 8.30 × 10−3
| 0.050 | |
Controls | 540 (27.9) | 1394 (72.1) | 79 (8.2) | 382 (39.5) | 506 (52.3) | |||||||
T | C | TT | TC | CC | ||||||||
rs2618479 | PM | 124 (20.4) | 484 (79.6) | 0.77 (0.62–0.97) | 0.023 | 0.138 | 10 (3.3) | 104 (34.2) | 190 (62.5) | 5.76 | 0.056 | 0.336 |
DM | 228 (21.5) | 834 (78.5) | 0.82 (0.69–0.99) | 0.035 | 0.210 | 31 (5.8) | 166 (31.3) | 334 (62.9) | 5.94 | 0.051 | 0.306 | |
PM + DM | 352 (21.1) | 1318 (78.9) | 0.81 (0.69–0.94) | 6.69 × 10−3
|
0.040
| 41 (4.9) | 270 (32.3) | 524 (62.8) | 7.50 | 0.023 | 0.138 | |
Controls | 482 (24.9) | 1454 (75.1) | 61 (6.3) | 360 (37.2) | 547 (56.5) | |||||||
A | G | AA | AG | GG | ||||||||
rs2254546 | PM | 111 (18.2) | 499 (81.8) | 0.77 (0.61–0.97) | 0.027 | 0.162 | 11 (3.6) | 89 (29.2) | 205 (67.2) | 4.75 | 0.093 | 0.558 |
DM | 215 (20.2) | 851 (79.8) | 0.87 (0.73–1.05) | 0.152 | 0.912 | 31 (5.8) | 153 (28.7) | 349 (65.5) | 3.39 | 0.184 | 1.104 | |
PM + DM | 326 (19.5) | 1350 (80.5) | 0.84 (0.71–0.98) | 0.029 | 0.174 | 42 (5.0) | 242 (28.9) | 554 (66.1) | 5.15 | 0.076 | 0.456 | |
Controls | 434 (22.4) | 1502 (77.6) | 56 (5.8) | 322 (33.3) | 590 (60.9) | |||||||
C | T | CC | CT | TT | ||||||||
rs2248932 | PM | 130 (21.3) | 480 (78.7) | 0.86 (0.69–1.07) | 0.165 | 0.990 | 8 (2.6) | 114 (37.4) | 183 (60.0) | 4.88 | 0.087 | 0.522 |
DM | 239 (22.5) | 823 (77.5) | 0.92 (0.77–1.10) | 0.342 | 2.052 | 31 (5.8) | 177 (33.3) | 323 (60.9) | 1.55 | 0.462 | 2.772 | |
PM + DM | 369 (22.1) | 1303 (77.9) | 0.89 (0.77–1.05) | 0.160 | 0.960 | 39 (4.7) | 291 (34.8) | 506 (60.5) | 2.05 | 0.360 | 2.160 | |
Controls | 465 (24.0) | 1469 (76.0) | 56 (5.8) | 353 (36.5) | 558 (57.7) |
SNPs | Groups | Additive model | Dominant model | Recessive model | |||
---|---|---|---|---|---|---|---|
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) | ||
rs2736340 | PM |
0.015
| 0.71 (0.57–0.89) |
0.049
| 0.70 (0.54–0.91) | 0.157 | 0.47 (0.25–0.91) |
DM | 0.133 | 0.82 (0.69–0.97) | 0.142 | 0.78 (0.63–0.97) | 1.405 | 0.76 (0.49–1.19) | |
PM + DM |
7.43 × 10
−3
| 0.78 (0.67–0.91) |
0.016
| 0.75 (0.62–0.91) | 0.239 | 0.66 (0.44–0.98) | |
rs7812879 | PM |
0.047
| 0.73 (0.58–0.92) | 0.138 | 0.73 (0.55–0.96) | 0.222 | 0.45 (0.21–0.95) |
DM | 0.204 | 0.82 (0.68–0.99) | 0.155 | 0.78 (0.62–0.97) | 2.539 | 0.82 (0.50–1.33) | |
PM + DM |
0.021
| 0.79 (0.67–0.92) |
0.032
| 0.76 (0.63–0.92) | 0.545 | 0.68 (0.44–1.06) | |
rs13277113 | PM | 0.05 | 0.75 (0.61–0.93) | 0.150 | 0.74 (0.57–0.96) | 0.234 | 0.54 (0.30–0.97) |
DM | 0.109 | 0.81 (0.69–0.97) | 0.089 | 0.77 (0.62–0.95) | 1.705 | 0.80 (0.53–1.21) | |
PM + DM |
0.012
| 0.79 (0.68–0.92) |
0.021
| 0.76 (0.63–0.91) | 0.365 | 0.70 (0.49–1.02) | |
rs2618479 | PM | 0.138 | 0.77 (0.62–0.96) | 0.391 | 0.78 (0.60–1.02) | 0.300 | 0.51 (0.26–1.00) |
DM | 0.226 | 0.83 (0.69–0.99) | 0.098 | 0.77 (0.62–0.95) | 4.324 | 0.92 (0.59–1.44) | |
PM + DM |
0.044
| 0.81 (0.69–0.94) |
0.043
| 0.77 (0.64–0.93) | 1.220 | 0.77 (0.51–1.15) | |
rs2254546 | PM | 0.182 | 0.78 (0.62–0.98) | 0.300 | 0.76 (0.58–1.00) | 0.846 | 0.61 (0.32–1.18) |
DM | 0.995 | 0.88 (0.74–1.05) | 0.498 | 0.82 (0.66–1.03) | 5.882 | 1.01 (0.64–1.58) | |
PM + DM | 0.206 | 0.84 (0.72–0.99) | 0.140 | 0.80 (0.66–0.97) | 2.819 | 0.86 (0.57–1.30) | |
rs2248932 | PM | 0.959 | 0.85 (0.68–1.07) | 2.871 | 0.91 (0.70–1.18) | 0.189 | 0.44 (0.21–0.93) |
DM | 2.076 | 0.92 (0.77–1.10) | 1.440 | 0.88 (0.71–1.09) | 5.822 | 1.01 (0.64–1.59) | |
PM + DM | 0.961 | 0.89 (0.76–1.05) | 1.346 | 0.89 (0.74–1.07) | 1.721 | 0.80 (0.52–1.21) |
Association between FAM167A-BLK polymorphisms and the ILD phenotype of PM/DM
Disease | Groups | rs2736340 | rs7812879 | rs13277113 | rs2618479 | rs2254546 | rs2248932 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) |
P
c
| OR (95 % CI) | ||
PM | P versus N | 4.89 | 0.95 (0.64–1.41) | 3.08 | 0.87 (0.57–1.33) | 3.87 | 0.91 (0.62–1.34) | 2.85 | 0.87 (0.58–1.29) | 5.13 | 0.96 (0.64–1.46) | 3.80 | 1.10 (0.74–1.63) |
P versus C | 0.07 | 0.69 (0.52–0.92) | 0.08 | 0.68 (0.50–0.92) | 0.11 | 0.72 (0.54–0.95) | 0.17 | 0.72 (0.54–0.97) | 0.39 | 0.76 (0.56–1.02) | 2.53 | 0.89 (0.68–1.18) | |
N versus C | 0.26 | 0.73 (0.53–0.99) | 0.79 | 0.78 (0.56–1.08) | 0.68 | 0.79 (0.58–1.06) | 1.50 | 0.84 (0.62–1.14) | 0.88 | 0.79 (0.57–1.09) | 1.13 | 0.81 (0.59–1.11) | |
DM | P versus N | 2.40 | 0.88 (0.66–1.18) | 2.31 | 0.87 (0.64–1.19) | 1.41 | 0.84 (0.63–1.12) | 2.65 | 0.89 (0.66–1.20) | 4.81 | 0.96 (0.71–1.30) | 3.30 | 0.92 (0.68–1.22) |
P versus C | 0.11 | 0.77 (0.62–0.96) | 0.15 | 0.77 (0.61–0.97) | 0.05 | 0.75 (0.60–0.93) | 0.19 | 0.78 (0.63–0.98) | 1.14 | 0.86 (0.69–1.08) | 1.59 | 0.88 (0.71–1.10) | |
N versus C | 1.51 | 0.87 (0.69–1.10) | 1.84 | 0.88 (0.68–1.13) | 2.00 | 0.89 (0.71–1.13) | 1.81 | 0.88 (0.69–1.12) | 2.28 | 0.89 (0.70–1.15) | 4.58 | 0.96 (0.76–1.22) | |
PM + DM | P versus N | 2.53 | 0.91 (0.72–1.15) | 1.70 | 0.87 (0.68–1.12) | 1.34 | 0.87 (0.69–1.09) | 1.80 | 0.88 (0.70–1.12) | 4.59 | 0.96 (0.76–1.23) | 5.11 | 0.98 (0.78–1.23) |
P versus C |
0.009
| 0.74 (0.61–0.89) |
0.01
| 0.73 (0.60–0.90) |
0.007
| 0.74 (0.62–0.89) |
0.03
| 0.76 (0.63–0.92) | 0.29 | 0.82 (0.68–1.00) | 1.22 | 0.88 (0.74–1.07) | |
N versus C | 0.28 | 0.82 (0.67–1.00) | 0.64 | 0.84 (0.68–1.04) | 0.64 | 0.85 (0.70–1.04) | 0.93 | 0.86 (0.71–1.06) | 0.85 | 0.85 (0.69–1.05) | 2.03 | 0.91 (0.74–1.11) |
Haplotype analysis of TNFAIP3 SNPs and patients
Groups | Haplotypes | Total of frequency (%) | Case (%) | Control (%) |
χ
2
|
P
c
| ||||
---|---|---|---|---|---|---|---|---|---|---|
rs7812879 | rs2254546 | rs2736340 | rs13277113 | rs2618479 | ||||||
PM | C | A | T | G | C | 73.8 | 74.0 | 72.1 | 6.29 |
0.0122
|
T | G | C | A | T | 20.9 | 17.5 | 22.1 | 7.33 |
0.0068
| |
C | G | C | G | C | 2.7 | 0.8 | 2.9 | 6.67 |
0.0098
| |
C | G | T | G | T | 1.5 | 1.9 | 1.8 | 0.13 | 0.7203 | |
C | G | C | G | T | 1.1 | 1.8 | 1.1 | 0.20 | 0.6574 | |
DM | C | A | T | G | C | 73.8 | 76.2 | 72.2 | 4.15 |
0.0415
|
T | G | C | A | T | 20.8 | 18.3 | 21.9 | 5.58 |
0.0181
| |
C | G | C | G | C | 2.5 | 1.9 | 2.7 | 2.73 | 0.0986 | |
C | G | T | G | T | 1.8 | 1.8 | 1.9 | 0.01 | 0.922 | |
C | G | C | G | T | 1.2 | 1.8 | 1.3 | 0.51 | 0.4729 | |
PM + DM | C | A | T | G | C | 74.3 | 76.4 | 72.1 | 8.18 |
0.042
|
T | G | C | A | T | 20.1 | 17.9 | 21.9 | 9.53 |
0.002
| |
C | G | C | G | C | 2.3 | 1.8 | 2.8 | 7.15 |
0.0075
| |
C | G | T | G | T | 1.8 | 2.0 | 1.9 | 0.06 | 0.8079 | |
C | G | C | G | T | 1.5 | 1.9 | 1.3 | 0.54 | 0.4625 |