NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients

Table 2 Association between NKX2-3, IRGM and ECM1 polymorphisms and disease susceptibility in patients with inflammatory bowel disease

	WT (%)	HET (%)	HOM (%)	P value	Carrier (%)	P value	OR (95%CI)	MAF	P value	OR (95%CI)
IRGM rs13361189
All CD (n = 808)	636 (78.7)	156 (19.3)	16 (2.0)	0.0601	172 (21.3)	0.0601	-	188 (11.6)	0.029	.36 (1.03-1.79)
Hungarian CD (n = 456)	355 (77.9)	89 (19.5)	12 (2.6)	NS12	101 (22.1)	NS12	-	113 (12.4)	NS12	-
Czech CD (n = 352)	281 (79.8)	67 (19.0)	4 (1.2)	NS12	71 (20.2)	NS12	-	75 (10.7)	NS12	-
All UC (n = 428)	351 (82.0)	76 (17.8)	1 (0.2)	NS12	77 (18.0)	NS12	-	78 (9.1)	NS12	-
Hungarian UC (n = 274)	221 (80.7)	52 (19.0)	1 (0.3)	NS12	53 (19.3)	NS12	-	54 (9.9)	NS12	-
Czech UC (n = 154)	130 (84.4)	24 (15.6)	0	NS12	24 (15.6)	NS12	-	24 (7.8)	NS12	-
All controls (n = 460)	382 (83.0)	75 (16.3)	3 (0.7)	-	78 (17.0)	-	-	81 (8.8)	-	-
Hungarian controls (n = 265)	217 (81.9)	46 (17.4)	2 (0.7)	-	48 (18.1)	-	-	50 (9.4)	-	-
Czech controls (n = 195)	165 (84.6)	29 (14.9)	1 (0.5)	-	30 (15.4)	-	-	31 (7.9)	-	-
NKX2 rs 10883365
All CD (n = 810)	208 (25.7)	389 (48.1)	213 (26.2)	0.0101	602 (74.3)	NS12	-	815 (50.3)	0.009	1.24 (1.06-1.48)
Hungarian CD (n = 457)	115 (25.2)	220 (48.1)	122 (26.7)	NS12	342 (74.8)	NS12	-	464 (50.8)	NS12	-
Czech CD (n = 353)	93 (26.3)	169 (47.9)	91 (25.8)	0.0701	260 (73.7)	NS1	-	351 (49.7)	0.0301	1.31 (1.03-1.68)
All UC (n = 427)	90 (21.1)	226 (52.9)	111 (26.0)	0.0041	337 (78.9)	0.0061	1.52 (1.13-2.08)	448 (52.5)	0.001	1.36 (1.13-1.63)
Hungarian UC (n = 274)	56 (20.4)	152 (55.5)	66 (24.1)	NS12	218 (79.6)	0.0701		284 (51.8)	0.060
Czech UC (n = 153)	34 (22.2)	74 (48.4)	45 (29.4)	0.0171	119 (77.8)	0.0461	1.63 (1.01-2.65)	164 (53.6)	0.0051	1.53 (1.14-2.07)
All controls (n = 469)	136 (29.0)	245 (52.2)	88 (18.8)	-	333 (71.0)	-	-	421 (44.9)	-	-
Hungarian controls (n = 271)	73 (26.9)	145 (53.5)	53 (19.6)	-	198 (73.1)	-	-	251 (46.3)	-	-
Czech controls (n = 198)	63 (31.8)	100 (50.5)	35 (17.7)	-	135 (68.2)	-	-	170 (42.9)	-	-
ECM1 rs13294
All CD (n = 807)	139 (17.2)	392 (48.6)	276 (34.2)	NS12	688 (82.8)	NS12	-	944 (58.5)	NS12	-
Hungarian CD (n = 455)	89 (19.6)	228 (50.1)	138 (30.3)	NS12	366 (80.4)	NS12	-	504 (55.4)	NS12	-
Czech CD (n = 352)	50 (14.2)	164 (46.6)	138 (39.2)	NS12	302 (85.8)	NS12	-	440 (62.5)	NS12	-
All UC (n = 428)	77 (18.0)	225 (52.6)	126 (29.4)	NS12	351 (82.0)	NS12	-	477 (55.7)	NS12	-
Hungarian UC (n = 275)	44 (16.0)	156 (56.1)	75 (27.3)	NS12	231 (84.0)	NS12	-	306 (55.6)	NS12	-
Czech UC (n = 153)	33 (21.6)	69 (45.1)	51 (33.3)	NS12	120 (78.4)	NS12	-	171 (55.9)	NS12	-
All controls (n = 463)	90 (19.4)	222 (47.9)	151 (32.6)	-	373 (80.6)	-	-	524 (56.6)	-	-
Hungarian controls (n = 265)	56 (21.1)	124 (46.8)	85 (32.1)	-	209 (78.9)	-	-	294 (55.5)	-	-
Czech controls (n = 198)	34 (17.2)	98 (49.5)	66 (33.3)	-	164 (82.8)	-	-	230 (58.1)	-	-

¹P value vs controls;

²P value Crohn's disease (CD) vs ulcerative colitis (UC). WT: Wild-type; HET: Heterozygous carrier; HOM: Homozygous carrier; MAF: Minor allele frequency; NS: Not significant.