Lin Z, Wang Z, Hegarty JP, Lin TR, Wang Y, Deiling S, Wu R, Thomas NJ, Floros J. Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease. World J Gastroenterol 2017; 23(27): 4897-4909 [PMID: 28785144 DOI: 10.3748/wjg.v23.i27.4897]
Corresponding Author of This Article
Zhenwu Lin, PhD, Senior Research Scientist, Department of Pediatrics, the Pennsylvania State University, College of Medicine, 500 University Drive, Hershey, PA 17033, United States. zxl13@psu.edu
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Basic Study
Open-Access Policy of This Article
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Table 4 Genetic association of IL-10, IL10RA, IL10RB, STAT3 and HO1 genes with pediatric inflammatory bowel disease
Gene
SNP ID
Genotype
Disease, n
Control, n
OR
95%CI
P value
IL-10
rs1800872
CC
89
78
0.863
0.564-1.313
0.71
CA
68
50
AA
2
1
C allele
246
206
A allele
72
52
rs3024498
CC
86
77
0.830
0.552-1.244
0.616
CT
65
47
TT
8
5
C allele
237
201
T allele
81
57
rs3024496
AA
57
27
1.487
1.055-2.099
0.022
AG
69
69
GG
33
33
A allele
183
123
G allele
185
135
IL10RA
rs3135932
AA
108
85
0.925
0.595-1.433
0.160
AG
39
40
GG
12
4
A allele
255
210
G allele
63
48
IL10RB
rs2834167
AA
91
64
1.318
0.884-1.968
0.203
AG
66
60
GG
2
5
A allele
248
188
G allele
70
70
STAT3
rs744166
GG
64
49
0.943
0.662-1.340
0.352
AG
66
63
AA
29
17
A allele
194
161
G allele
124
97
HO1
rs2071746
AA
32
30
0.957
0.680-1.348
0.634
AT
96
71
TT
31
28
A allele
158
131
T allele
160
127
Table 5 Epistatic interaction between two single nucleotide polymorphisms in three IL-10 single nucleotide polymorphisms studied
Epistatic model
rs3024496, P = 0.022, Bp = 0.0226
rs3024498, P = 0.616; Bp = 1
rs1800872, P = 0.71; Bp = 1
aa
P = 0.00015; Bp = 0.003
P = 0.638; Bp = 1
ad
P = 0.057; Bp = 1
P = 0.605; Bp = 1
da
P = 0.010; Bp = 0.216
P = 0.977; Bp = 1
dd
P = 0.239; Bp = 1
P = 0.049; Bp = 1
rs3024496, P = 0.022, Bp = 0.0226
aa
P = 0.371; Bp = 1
ad
P = 0.222; Bp = 1
da
P = 0.167; Bp = 1
dd
P = 0.584; Bp = 1
Table 6 Gene-gene interaction between IL-10 with IL10RA, IL10RB, STAT3, or HO1 in pediatric inflammatory bowel disease
Gene
SNP
Epistatic model
IL10RA rs3135932, P = 0.160; Bp = 1
IL10RB rs2834167, P = 0.203; Bp = 1
STAT3 rs744166, P = 0.352; Bp = 1
HO1 rs2071746, P = 0.634; Bp = 1
IL-10
rs1800872
aa
P = 0.046; Bp = 1
P = 0.029; Bp = 1
P = 0.248; Bp = 1
P = 0.910; Bp = 1
ad
P = 0.739; Bp = 1
P = 0.107; Bp = 1
P = 0.954; Bp = 1
P = 0.617; Bp = 1
da
P = 0.056; Bp = 1
P = 0.376; Bp = 1
P = 0.117; Bp = 1
P = 0.569; Bp = 1
dd
P = 0.126; Bp = 1
P = 0.168; Bp = 1
P = 0.036; Bp = 1
P = 0.671; Bp = 1
rs3024498
aa
P = 0.330; Bp = 1
P = 0.062; Bp = 1
P = 0.143; Bp = 1
P = 0.898; Bp = 1
ad
P = 0.068; Bp = 1
P = 0.629; Bp = 1
P = 0.032; Bp = 1
P = 0.840; Bp = 1
da
P = 0.884; Bp = 1
P = 0.307; Bp = 1
P = 0.316; Bp = 1
P = 0.607; Bp = 1
dd
P = 0.265; Bp = 1
P = 0.644; Bp = 1
P = 0.029; Bp = 1
P = 0.790; Bp = 1
rs3024496
aa
P = 0.021; Bp = 0.433
P = 0.425; Bp = 1
P = 0.538; Bp = 1
P = 0.346; Bp = 1
ad
P = 0.020; Bp = 0.426
P = 0.495; Bp = 1
P = 0.306; Bp = 1
P = 0.741; Bp = 1
da
P = 0.081; Bp = 1
P = 0.189; Bp = 1
P = 0.234; Bp = 1
P = 0.297; Bp = 1
dd
P = 0.967; Bp = 1
P = 0.570; Bp = 1
P = 0.402; Bp = 1
P = 0.457; Bp = 1
IL10RB
rs2834167
aa
P = 0.403; Bp = 1
P = 0.251; Bp = 1
P = 0.128; Bp = 1
ad
P = 0.384; Bp = 1
P = 0.956; Bp = 1
P = 0.369; Bp = 1
da
P = 0.518; Bp = 1
P = 0.776; Bp = 1
P = 0.0018; Bp = 0.039
dd
P = 0.176; Bp = 1
P = 0.072; Bp = 1
P = 0.289; Bp = 1
Table 7 Epistatic interaction among the two IL-10 single nucleotide polymorphisms, rs1800872 and rs3024496, and IL10RA, IL10RB, STAT3, or HO1
Epistatic model
IL10RA rs3135932, P = 0.16; Bp = 1
IL10RB rs2834167, P = 0.203; Bp = 1
STAT3 rs744166, P = 0.352; Bp = 1
HO1 rs2071746, P = 0.634; Bp = 1
Two IL-10 SNPs: rs1800872 and rs3024496 aa: P = 0.0002; Bp = 0.003
aaa
P = 0.003; Bp = 0.099
P = 0.080; Bp = 1
P = 0.175; Bp = 1
P = 0.216; Bp = 1
aad
P = 0.130; Bp = 1
P = 0.340; Bp = 1
P = 0.920; Bp = 1
P = 0.140; Bp = 1
Table 8 Epistatic interaction of IL10RB and HO1 with IL-10 (three single nucleotide polymorphisms), IL10RA, or STAT3
Epistatic model
IL-10 rs1800872, P = 0.71; Bp = 1
IL-10 rs3024498, P = 0.616; Bp = 21
IL-10 rs3024496, P = 0.022; Bp = 0.0226
IL10RA rs3135932, P = 0.16; Bp = 1
STAT3 rs744166, P = 0.352; Bp = 1
aa IL10RB rs2834167 and HO1 rs2071746
aaa
P = 0.029;
P = 0.545;
P = 0.255;
P = 0.023;
P = 0.049;
Bp = 1
Bp = 1
Bp = 1
Bp = 0.820
Bp = 1
aad
P = 0.127;
P = 0.240;
P = 0.928;
P = 0.193;
P = 0.554;
Bp = 1
Bp = 1
Bp = 1
Bp = 1
Bp = 1
ad IL10RB rs2834167 and HO1 rs2071746
ada
P = 0.394;
P = 0.824;
P = 0.242;
P = 0.444;
P = 0.436;
Bp = 1
Bp = 1
Bp = 1
Bp = 1
Bp = 1
add
P = 0.976;
P = 0.406;
P = 0.327;
P = 0.644;
P = 0.649;
Bp = 1
Bp = 1
Bp = 1
Bp = 1
Bp = 1
da IL10RB rs2834167 and HO1 rs2071746
daa
P = 0.00015;
P = 0.489;
P = 0.047;
P = 0.008;
P = 0.014;
Bp = 0.005
Bp = 1
Bp = 1
Bp = 0.287
Bp = 0.491
dad
P = 0.072;
P = 0.140;
P = 0.388;
P = 0.205;
P = 0.977;
Bp = 1
Bp = 1
Bp = 1
Bp = 1
Bp = 1
dd IL10RB rs2834167 and HO1 rs2071746
dda
P = 0.199;
P = 0.808;
P = 0.568;
P = 0.766;
P = 0.4731;
Bp = 1
Bp = 1
Bp = 1
Bp = 1
Bp = 1
ddd
P = 0.694;
P = 0.958;
P = 0.007;
P = 0.181;
P = 0.057;
Bp = 1
Bp = 1
Bp = 0.242
Bp = 1
Bp = 1
Citation: Lin Z, Wang Z, Hegarty JP, Lin TR, Wang Y, Deiling S, Wu R, Thomas NJ, Floros J. Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease. World J Gastroenterol 2017; 23(27): 4897-4909