Table 1 Characteristics of cases and controls
Characteristic
|
Control n(%)
|
Case n(%)
|
P value
|
Gender
Male
|
162 (38.76)
|
118 (39.33)
|
0.876
|
Female
|
256 (61.24)
|
182 (60.67)
|
Age (mean±SD,years)
|
44.09 ± 13.75
|
43.6 ± 13.48
|
0.64
|
Smoking status
|
|
|
|
Current and ex-smokers
|
55 (13.16)
|
49 (16.33)
|
0.179
|
Non-smoking
|
207 (49.52)
|
247 (82.33)
|
Smoking status unclear
|
156(37.32)
|
4(1.33)
|
|
BMI(mean±SD)
|
22.94 ± 3.34
|
23.11 ± 3.28
|
0.517
|
BMI<24
|
227(54.31)
|
197(65.67)
|
|
BMI≥24
|
121(29.67)
|
103(34.33)
|
|
Asthma onset time
|
|
|
|
Early-onset asthma(<18 years old)
|
|
42 (14.00)
|
|
Late-onset asthma(≥18 years old)
|
|
223 (74.33)
|
|
Onset time unclear
|
|
35(11.67)
|
|
Asthma with pulmonary function test
|
|
|
|
FEV1% predicted (mean±SD)
|
|
83.61 ± 19.97
|
|
FEV1/FVC(mean±SD)
|
|
72.37 ± 13.63
|
|
Values are means ± standard deviation (SD) and absolute numbers (percentages). BMI, body mass index; Early-onset asthma, age of asthma onset <18years; Late-onset asthma, age of asthma onset ≥18years; FEV1, forced expiratory volume in one second; FVC, forced vital capacity.
Table 2 The four SNPs associated with asthma
Genes
|
SNPs
|
Genetic models
|
Genotypes
|
Control n(%)
|
Case n(%)
|
P* OR 95%CI*
|
CDHR3
|
rs3847076
|
Dom
|
CC
|
285(68.2)
|
185(61.7)
|
0.081
|
1.378(0.962-1.973)
|
|
|
|
CA+AA
|
133(31.8)
|
115(38.3)
|
|
|
|
|
Rec
|
CC+CA
|
408(97.6)
|
285(95.0)
|
0.060
|
2.689(0.958-7.545)
|
|
|
|
AA
|
10(2.4)
|
15(5.0)
|
|
|
|
|
Add
|
CC/CA/AA
|
|
|
0.032*
|
1.407(1.030-1.923)*
|
EMSY
|
rs2508746
|
Dom
|
CC
|
244(58.4)
|
197(65.7)
|
0.019*
|
0.660(0.465-0.935)*
|
|
|
|
TC+TT
|
174(41.6)
|
103(34.3)
|
|
|
|
|
Rec
|
CC+TC
|
396(94.7)
|
288(96.0)
|
0.445
|
0.733(0.331-1.626)
|
|
|
|
TT
|
22(5.3)
|
12(4.0)
|
|
|
|
|
Add
|
CC/TC/TT
|
|
|
0.026*
|
0.718(0.536-0.961)*
|
EMSY
|
rs1892953
|
Dom
|
AA
|
115(27.5)
|
76(25.3)
|
0.647
|
1.094(0.745-1.605)
|
|
|
|
GA+GG
|
303(72.5)
|
224(74.7)
|
|
|
|
|
Rec
|
AA+GA
|
319(76.3)
|
219(73.0)
|
0.015*
|
1.667(1.104-2.518)*
|
|
|
|
GG
|
99(23.7)
|
81(27.0)
|
|
|
|
|
Add
|
AA/GA/GG
|
|
|
0.081
|
1.240(0.974-1.579)
|
EMSY
|
rs12278256
|
Dom
|
GG
|
357(85.4)
|
272(90.7)
|
0.033*
|
0.563(0.332-0.953)*
|
|
|
|
TG+TT
|
61(14.6)
|
28(9.3)
|
|
|
|
|
Rec
|
GG+TG
|
417(99.8)
|
300(100)
|
1
|
-
|
|
|
|
TT
|
1(0.2)
|
0(0)
|
|
|
|
|
Add
|
GG/TG/TT
|
|
|
0.027*
|
0.558(0.332-0.937)*
|
* Adjusted for sex, age, body mass index and smoking history with logistic regression, P<0.05. Add: additive model; Dom: dominant model; Rec: recessive model.
Table 3 Results of stratification analysis based on gender, smoking status, BMI status, and onset age of asthma
SNPs
|
Genetic models
|
|
Stratified by gender
|
|
Stratified by smoking status
|
|
Stratified by BMI status
|
|
Stratified by onset age of asthma
|
P
|
OR 95%CI
|
P
|
OR 95%CI
|
P
|
OR 95%CI
|
P
|
OR 95%CI
|
rs3847076
|
Dom
|
male
|
0.048*
|
1.834(1.005-3.347)
|
smoking
|
0.018*
|
2.252(1.149-4.413)
|
BMI<24
|
0.004*
|
1.925(1.233-3.007)
|
late onset asthma
|
0.063
|
1.428(0.981-2.077)
|
|
Rec
|
0.115
|
5.656(0.654-48.882)
|
0.09
|
4.222(0.799-22.320)
|
0.12
|
2.835(0.761-10.559)
|
0.049*
|
2.861(1.006-8.134)
|
|
Add
|
0.023*
|
1.869(1.091-3.202)
|
0.009*
|
2.168(1.212-3.872)
|
0.005*
|
1.835(1.234-2.726)
|
0.023*
|
1.457(1.054-2.013)
|
rs2508746
|
Dom
|
female
|
-
|
-
|
non-smoking
|
0.014*
|
0.618(0.420-0.908)
|
BMI<24
|
0.027*
|
0.612(0.396-0.946)
|
late onset asthma
|
0.016*
|
0.637(0.441-0.919)
|
|
Rec
|
-
|
-
|
0.498
|
0.737(0.304-1.782)
|
0.862
|
0.920(0.361-2.347)
|
0.419
|
0.706(0.304-1.641)
|
|
Add
|
-
|
-
|
0.022*
|
0.685(0.495-0.947)
|
0.06
|
0.710(0.496-1.015)
|
0.021*
|
0.696(0.511-0.948)
|
rs1892953
|
Dom
|
female
|
0.548
|
1.159(0.717-1.873)
|
non-smoking
|
0.456
|
0.174(0.770-1.790)
|
BMI<24
|
0.702
|
1.097(0.682-1.766)
|
late onset asthma
|
0.692
|
1.084(0.726-1.620)
|
|
Rec
|
0.038*
|
1.738(1.031-2.927)
|
0.04*
|
1.615(1.021-2.553)
|
0.017*
|
1.910(1.123-3.250)
|
0.017*
|
1.680(1.095-2.578)
|
|
Add
|
0.108
|
1.282(0.947-1.737)
|
0.091
|
1.259(0.964-1.644)
|
0.096
|
1.297(0.955-1.761)
|
0.094
|
1.241(0.964-1.599)
|
rs12278256
|
Dom
|
female
|
0.037*
|
0.468(0.229-0.955)
|
non-smoking
|
0.023*
|
0.512(0.287-0.913)
|
BMI<24
|
0.033*
|
0.485(0.249-0.944)
|
late onset asthma
|
-
|
-
|
|
Rec
|
1
|
|
1
|
|
1
|
|
-
|
-
|
|
Add
|
0.032*
|
0.465(0.231-0.936)
|
0.02*
|
0.508(0.288-0.897)
|
0.028*
|
0.481(0.250-0.923)
|
-
|
-
|
* Adjusted for sex, age, body mass index and smoking history with logistic regression, P<0.05. Add: additive model; Dom: dominant model; Rec: recessive model.
Table 4 The association between EMSY haplotypes in block 1 and asthma susceptibility
Haplotype
|
Case N (%)
|
Control N (%)
|
Chi2
|
Pearson's p
|
OR (95% CI)
|
AAGTTAAAT
|
207.00(0.345)
|
285.58(0.342)
|
0
|
0.999
|
1.000 (0.801-1.248)
|
GAGCGGAGC
|
43.00(0.072)
|
57.59(0.069)
|
0.023
|
0.878
|
1.033 (0.685-1.556)
|
GAGCTAAAT
|
44.00(0.073)
|
58.04(0.069)
|
0.054
|
0.815
|
1.050 (0.699-1.577)
|
GAGCTGAGC
|
35.00(0.058)
|
52.18(0.062)
|
0.134
|
0.714
|
0.921 (0.592-1.432)
|
GAGTTAGGT
|
178.00(0.297)
|
230.22(0.275)
|
0.589
|
0.443
|
1.095 (0.868-1.382)
|
GATCTGAGT
|
28.00(0.047)
|
61.00(0.073)
|
4.346
|
0.037*
|
0.615 (0.388-0.975)*
|
GGGCTAAAT
|
60.00(0.100)
|
76.32(0.091)
|
0.246
|
0.62
|
1.094 (0.766-1.562)
|
Global result
|
600
|
836
|
4.912565
|
0.555
|
|
For each haplotype, alleles were arranged in order of rs4945087, rs7125744, rs12278256, rs7926009, rs7115331, rs2508740, rs1939469, rs2508755 rs3753051.