DNA polymorphism and risk of esophageal squamous cell carcinoma in a population of North Xinjiang, China

Table 1 Characteristics of ESCC patients and controls n (%)

Variables	Controls (n = 326)	Patients (n = 128)	P value
Age (yr)
Median (range)	61 (55-78)	63 (58-81)	0.950
Gender
Female	160	58
Male	166	70	0.470
Smoking status
Non-smokers	112 (34.3)	26 (20.3)
Ex-smokers	152 (46.7)	66 (51.6)
Current smokers	62 (19.0)	36 (28.1)	0.007
Alcohol use
Never	81 (24.9)	15 (11.7)
Ever	245 (75.1)	113 (88.3)	0.002
Metastasis
No		92 (71.9)
Yes		36 (28.1)
Ethnicity
Kazakh	89 (27.3)	39 (30.5)
Uygur	87 (26.7)	30 (23.4)
Han	150 (46.0)	59 (46.1)	0.703

Table 2 Analysis of genes allele in ESCC carcinogenesis

Gene	Locus	Control allele frequency (n = 326)		Case allele frequency (n = 128)		OR (95% CI)	P value
		1	2	1	2
ALDH2	Rs886205	448	204	200	56	1.626 (1.158-2.284)	0.005
XPD	Rs50872	522	130	187	69	1.482 (1.058-2.074)	0.022
MGMT	Rs7069143	356	296	162	94	0.698 (0.518-0.939)	0.017
MGMT	Rs3793909	535	117	224	32	0.653 (0.429-0.995)	0.046
MGMT	Rs12771882	165	487	82	174	0.719 (0.524-0.986)	0.040
MGMT	Rs551491	280	372	132	124	0.707 (0.529-0.945)	0.019
MGMT	Rs11016879	264	388	136	120	1.666 (1.245-2.228)	0.001
MGMT	Rs7071825	415	237	139	117	0.618 (0.506-0.910)	0.009

Table 3 Analysis of genes genotype in ESCC carcinogenesis n (%)

Gene/genotype	Control (n = 326)	Cases (n = 128)	OR (95% CI)	P value
ALDH2
Rs886205
TT	40 (12.270)	5 (3.906)	1.0 (reference)
CT	114 (34.969)	56 (43.750)	3.930 (1.470-10.504)	0.004
CC	172 (52.761)	67 (52.344)	3.116 (1.179-8.234)	0.017
MGMT
Rs11016878
AA	18 (5.522)	15 (11.719)	1.0 (reference)
AG	130 (39.877)	42 (32.815)	0.388 (0.180-0.836)	0.013
GG	178 (54.601)	71 (55.466)	0.479 (0.229-1.002)	0.047
Rs11016879
GG	118 (36.196)	17 (13.281)	1.0 (reference)
AG	150 (46.012)	85 (66.406)	3.933 (2.216-6.982)	0.000
AA	58 (17.791)	26 (20.313)	3.112 (1.565-6.181)	0.001
Rs7069143
CC	87 (26.687)	54 (42.188)	1.0 (reference)
CT	182 (55.828)	54 (42.188)	0.478 (0.303-0.754)	0.001
TT	57 (17.485)	20 (15.625)	0.565 (0.306-1.043)	0.066
Rs12771882
GG	181 (55.521)	63 (49.219)	1.0 (reference)
AG	125 (38.344)	48 (37.500)	1.013 (0.711-1.712)	0.661
AA	20 (6.350)	17 (13.281)	2.442 (1.204-4.595)	0.011
Rs7075748
CC	88 (26.994)	22 (17.188)	1.0 (reference)
CT	156 (47.853)	76 (59.375)	1.949 (1.134-3.350)	0.015
TT	82 (25.153)	30 (23.438)	1.463 (0.782-2.740)	0.233
Rs7071825
AA	46	24	1.0 (reference)
AG	144	69	0.918 (0.519-1.625)	0.770
GG	136	35	0.493 (0.266-0.915)	0.024

Table 4 Analysis of genes allele in ESCC progression

Gene	Locus	Control allele frequency (n = 92)		Case allele frequency (n = 36)		OR (95% CI)	P value
		1	2	1	2
CYP2A6	Rs8192720	153	31	68	4	0.290 (0.099-0.855)	0.018
MGMT	Rs7068306	137	47	41	31	2.204 (1.244-3.906)	0.006
MGMT	Rs10734088	135	49	42	30	1.968 (1.111-3.484)	0.019
MGMT	Rs4751115	112	72	30	42	2.178 (1.251-3.791)	0.005
MGMT	Rs2053139	93	91	48	24	0.511 (0.289-0.903)	0.020

Table 5 Analysis of genes genotype in ESCC progression n (%)

Gene/genotype	Without metastasis (n = 92)	With metastasis (n = 36)	OR (95% CI)	P value
MGMT
Rs7068306
CC	60 (65.217)	12 (33.333)	1.0 (reference)
CG	17 (18.478)	16 (44.445)	4.706 (1.872-11.833)	0.001
GG	15 (16.304)	8 (22.222)	2.667 (0.925-7.685)	0.064