Table S1. Haplotype analysis of PLCL1 SNPs between DM patients and controls
Haplotypes
Case
Control
(%)
(%)
rs938929
rs1518364
rs2117339
rs6738825
rs7572733
G
C
A
C
C
71.8
A
T
G
T
T
28.2
2
Pc
76.2
8.4
0.019
23.8
7.6
0.030
Pc: P-value corrected by Bonferroni method
Table S2. Association of the five PLCL1 SNPs and PM/DM patients with anti-Jo-1 antibody.
Groups*
rs938929
rs1518364
rs2117339
rs6738825
rs7572733
P
OR (95%CI)
P
OR (95%CI)
P
OR (95%CI)
P
OR (95%CI)
P
OR (95%CI)
P vs. N
0.97
1.01(0.61-1.67)
0.69
0.90(0.54-1.51)
0.98
1.00(0.60-1.66)
0.86
1.05(0.64-1.72)
0.85
0.95(0.57-1.59)
P vs. C
0.62
1.13(0.70-1.81)
0.74
1.01(0.66-1.78)
0.66
1.12(0.69-1.81)
0.35
1.25(0.78-2.01)
0.66
1.11(0.69-1.81)
N vs. C
0.32
1.12(0.90-1.39)
0.08
1.21(0.98-1.49)
0.31
1.12(0.90-1.39)
0.09
1.20(0.97-1.48)
0.15
1.17(0.94-1.45)
OR odds ratio; CI confidence interval. *We only analyzed the PM/DM patients with anti-Jo-1 antibody from the Peking Union Medical College Hospital. Because the data of
the PM/DM patients with anti-Jo-1 antibody from other three additional centers in China were missing, we could not analyze these patients.
Group P: patients with anti-Jo-1 antibody positive; Group N: patients with anti-Jo-1 antibody negative; Group C: healthy controls; Group P (n=47); Group N (n=301); Group
C (n=968), the data of some patients (n=95) from the Peking Union Medical College Hospital were missing.
Table S3. A summary of loci associated with PM/DM through GWAS.
Author
Sample size
PM
Miller 1
Jani
2
DM
1178
410
739
Control
4724
3572
p Value
Gene
SNPs
PLCL1
rs7572733
0.00089
PLCL1
rs1518364
0.0037
PLCL1
rs938929
0.0030
BLK
rs2736340
0.0031
CCL21
rs2492358
0.0060
CCL21
rs951005
0.0076
5’ HLA-DQA1
rs116152465
TYK2
rs2304256
3’HLA-DRA1
rs114424451
5’BLK
PM
0.00044
DM
IIM
1.48542E-05
1.04525E-05
0.00020
0.00027
0.00021
9.09513E-06
rs13277113
0.00045
0.0077
BLK
rs2618476
0.00062
0.0082
GLIS3
rs7020673
0.0023
ANKRD55
rs6859219
0.0023
RASGRP3
rs13385731
0.0049
5’ERBB3
rs11171739
0.0069
0.0054
ARHGAP31
rs11712165
0.0071
0.0080
5’ATG16L1
rs10210302
0.0094
0.0071
0.0033
P value: Miller et al. the p value from a false discovery rate (FDR); Jani et al. the p value from random-effects meta-analysis.
Figure S1. Linkage disequilibrium (LD) analysis of the SNPs in the PLCL1 gene region. The LD plots were generated in Haploview
software v4.2. Data from our study were similar to that from the HapMap CHB population. The number (divided by 100) in the small square
represents the r2 value and ranges from 0 to 1. The five SNPs (rs938929, rs1518364, rs2117339, rs6738825, and rs7572733) in PLCL1 reside in
an LD block. LD plots generated with data from (A). the present study; (B). HapMap CHB.
References:
1.
Miller FW, Cooper RG, Vencovsky J, Rider LG, Danko K, Wedderburn LR, et al. Genome-wide association study of dermatomyositis reveals genetic overlap with
other autoimmune disorders. Arthritis Rheum 2013;65:3239-47.
2.
Jani M, Massey J, Wedderburn LR, Vencovsky J, Danko K, Lundberg IE, et al. Genotyping of immune-related genetic variants identifies TYK2 as a novel associated
locus for idiopathic inflammatory myopathies. Ann Rheum Dis 2014;73:1750-2.