Associations of SMAD4 rs10502913 and NLRP3 rs1539019 Polymorphisms with Risk of Coal Workers’ Pneumoconiosis Susceptibility in Chinese Han Population

Figures & data

Table 1 Demographic and Selected Variables of the CWP Cases and Control Subjects

Variables	CWP (N = 292)		Controls (315)		P
	N	%	N	%
Age, year (mean ±SD)	71.4±10.2		68.4±10.8		0.001
Exposure years (mean ±SD)	27.2±6.2		23.8±8.3		<0.001
Smoking status					0.002
Never	31	10.6	41	13.0
Current	79	27.1	122	38.7
Former	182	62.3	152	48.3
Smoking years					0.625
0	31	10.6	41	13.0
1–20	43	14.7	49	15.6
21–40	127	43.5	122	38.7
>40	91	31.2	103	32.7
Stage
I	190	65.1
II	37	12.7
III	65	22.2

Note: Significant difference in comparison with the study group, P < 0.05.

Abbreviations: CWP, coal workers’ pneumoconiosis; SD, standard deviation; N, number of patient.

Table 2 Primary Information on Genotyped SNPs

Gene	SNP	Chromosomal Position	Base	MAF		HWE P
				Cases	Controls
SMAD4	rs10502913	chr18:51041901	G>A	0.293	0.298	0.929
NLRP3	rs1539019	chr1:247436999	A>C	0.481	0.483	0.923

Note: HWE P value in the control group.

Abbreviations: HWE, Hardy-Weinberg equilibrium; SNP, single nucleotide polymorphism.

Table 3 Distributions of the Genotypes of Different Genes and Their Associations with CWP Risk

Variables	CWP (N = 292)		Controls (N = 315)		Univariate Analysis		Multivariable Analysis
	N	%	N	%	OR (95% CI)	P value	OR (95% CI)	P value
SMAD4 rs10502913
AA	18	6.2	26	8.3	1.00 (ref)	0.534	1.00 (ref)	0.454
AG	135	46.2	136	43.2	1.434 (0.751–2.737)	0.275	1.535 (0.785–3.000)	0.210
GG	139	47.6	153	48.5	1.312 (0.690–2.497)	0.408	1.426 (0.732–2.781)	0.297
NLRP3 rs1539019
AA	74	25.3	76	24.1	1.00 (ref)	0.800	1.00 (ref)	0.788
CA	133	45.6	152	48.3	1.003 (0.648–1.555)	0.988	0.985 (0.652–1.489)	0.944
CC	85	29.1	87	27.6	0.899 (0.605–1.335)	0.597	1.127 (0.713–1.782)	0.608

Note: All variables in the table were included in the multivariate model, while adjusting for age, coal dust exposure time and smoking status.

Abbreviations: CWP, coal workers’ pneumoconiosis; OR, odds ratio; CI, confidence interval; N, number of patients.

Table 4 Distributions of the Genotypes of Different Alleles and Their Associations with CWP Risk

Variables	CWP (N = 292)		Controls (N = 315)		P	OR	95% CI
	N	%	N	%
SMAD4 rs10502913
A allele	171	29.3	188	29.8	0.831	1.00	ref
G allele	413	70.7	442	70.2		1.027	0.803–1.315
NLRP3 rs1539019
A allele	281	48.1	304	48.3	0.962	1.00	ref
C allele	303	51.9	326	51.7		1.006	0.803–1.260

Abbreviations: CWP, coal workers’ pneumoconiosis; OR, odds ratio; CI, confidence interval; N, number of patients.

Table 5 Odds Ratios for Association of Genotypes with CWP After Stratification by Smoking Status

Variables	Smokers, n		Univariate Analysis		Multivariable Analysis		Non-Smokers, n		Univariate Analysis		Multivariable Analysis
	CWP	Controls	OR (95% CI)	P	OR (95% CI)	P	CWP	Controls	OR (95% CI)	P	OR (95% CI)	P
SMAD4 rs10502913	261	274					31	41
AA	16	23	1.00 (ref)	0.568	1.00 (ref)	0.435	2	3	1.00 (ref)	0.898	1.00 (ref)	0.969
AG	122	121	1.360(0.686–2.659)	0.378	1.591(0.786–3.220)	0.197	13	15	1.300(0.187–9.021)	0.791	0.971(0.127–7.432)	0.977
GG	123	130	1.449(0.730–2.878)	0.289	1.502(0.743–3.038)	0.257	16	23	1.043(0.156–6.974)	0.965	0.862(0.118–6.304)	0.884
NLRP3 rs1539019
AA	65	66	1.00 (ref)	0.789	1.00 (ref)	0.752	9	10	1.00 (ref)	0.887	1.00 (ref)	0.691
CA	123	137	0.912(0.599–1.388)	0.666	0.998(0.654–1.544)	0.993	10	15	0.741(0.222–2.471)	0.625	0.796(0.223–2.844)	0.725
CC	73	71	1.044(0.650–1.767)	0.859	1.164(0.711–1.905)	0.547	12	16	0.833(0.258–2.688)	0.760	0.578(0.173–2.045)	0.395

Note: All variables in the table were included in the multivariate model, while adjusting for age, coal dust exposure time and smoking status.

Abbreviations: CWP, coal workers’ pneumoconiosis; OR, odds ratio; CI, confidence interval; N, number of patients.