Association of MYO9B gene polymorphisms with inflammatory bowel disease in Chinese Han population

Table 1 Demographic and clinical characteristics of inflammatory bowel disease patients and controls, n (%)

	CD	UC	Controls
Total (n)	207	235	402
Sex (F/M)	91/116	106/129	196/206
Age at diagnosis			Mean age 40.21 ± 5.37
A1 (< 16 yr)	10 (4.8)	4 (1.7)
A2 (17-40 yr)	133 (64.3)	127 (54.0)
A3 (> 40 yr)	64 (30.9)	104 (44.3)
Disease location, CD
L1 (terminal ileum)	75 (36.2)	Proctitis 71 (30.2)
L2 (colonic location)	42 (20.3)	Left-sided 103 (43.8)
L3 (ileocolitis)	90 (43.5)	Extensive 61 (26.0)
L41 (upper gastrointestinal tract)	18 (8.7)
Disease behavior, CD
B1 (inflammatory disease)	63 (30.4)
B2 (structuring disease)	85 (41.1)
B3 (penetrating disease )	59 (28.5)
P2 (perianal disease)	47 (22.7)

¹L4 is a modifier that can be added to L1-L3 when concomitant upper gastrointestinal disease is present;

²Perianal disease was categorized as P, that could be added to B1-B3 when concomitant perianal disease is present. CD: Crohn’s disease; UC: Ulcerative colitis.

Table 2 Allele and genotype frequencies of the MYO9B SNPs rs962917 in inflammatory bowel disease patients vs controls, n (%)

	Control (n = 402)	IBD (n = 442)			CD (n = 207)			UC (n = 235)
			OR (95%CI)	Pcorr		OR (95%CI)	Pcorr		OR (95%CI)	Pcorr
GF
CC	27 (6.6)	38 (8.6)	1.23 (0.79-1.65)	0.64	21 (10.1)	1.52 (0.63-2.17)	0.09	17 (7.2)	1.09 (0.82-1.40)	0.75
CT	173 (42.5)	163 (36.9)	0.87 (0.52-1.24)	0.26	79 (38.2)	0.81 (0.47-1.33)	0.24	84 (35.8)	0.83 (0.69-1.14)	0.31
TT	207 (50.9)	241 (54.5)	1.07 (0.82-1.41)	0.97	107 (51.7)	1.02 (0.85-1.24)	0.83	134 (57.0)	1.12 (0.67-1.46)	0.48
AF
C	227 (27.9)	239 (27.0)	0.92 (0.66-1.71)	0.52	121 (29.2)	1.06 (0.75-1.41)	0.66	118 (25.1)	0.86 (0.67-1.35)	0.38
T	587 (72.1)	645 (73.0)	1.02 (0.81-1.30)	0.77	293 (70.8)	0.98 (0.61-1.59)	0.49	352 (74.9)	1.14 (0.82-1.33)	0.29

IBD: Inflammatory bowel disease; GF: Genotype frequencies; AF: Allele frequencies; OR: Odds ratio; CI: Confidence interval; SNP: Single nucleotide polymorphism; CD: Crohn’s disease. Genotype and allele frequencies in patients and controls were compared using the χ² test; P_corr: Corrected P value.

Table 3 Allele and genotype frequencies of the MYO9B SNPs rs1545620 in IBD patients vs controls, n (%)

	Controls (n = 402)	IBD (n = 442)			CD (n = 207)			UC (n = 235)
			OR (95%CI)	Pcorr		OR (95%CI)	Pcorr		OR (95%CI)	Pcorr
GF
AA	42 (10.4)	63 (14.3)	1.47 (0.56-3.85)	0.43	26 (12.6)	2.01 (0.71-5.66)	0.21	37 (15.7)	1.26 (0.31-3.25)	0.61
AC	135 (33.6)	128 (28.9)	0.86 (0.62-1.94)	0.29	63 (30.4)	0.91 (0.27-2.49)	0.07	65 (27.7)	0.82 (0.57-2.61)	0.37
CC	225 (56.0)	251 (56.8)	1.03 (0.37-2.19)	0.71	118 (57.0)	1.35 (0.33-2.19)	0.57	133 (56.6)	1.14 (0.61-3.77)	0.84
AF
A	219 (27.2)	254 (25.9)	0.96 (0.44-2.91)	0.61	115 (27.8)	1.09 (0.39-2.46)	0.37	139 (29.6)	1.16 (0.57-3.14)	0.57
C	585 (72.8)	727 (74.1)	1.07 (0.56-2.28)	0.77	299 (72.2)	0.92 (0.49-3.17)	0.42	331 (70.4)	0.92 (0.77-2.51)	0.39

IBD: Inflammatory bowel disease; GF: Genotype frequencies; AF: Allele frequencies; CD: Crohn’s disease. Genotype and allele frequencies in patients and controls were compared using the χ² test; P_corr: Corrected P value.

Table 4 Genotype frequency of rs962917 and rs1545620 SNPs in Crohn’s disease phenotypes, n (%)

CD (n = 207)	rs962917			rs1545620
	CC (21)	CT (79)	TT (107)	AA (26)	AC (63)	CC (118)
Age, CD
A1 (< 16 yr)	1 (4.7)	4 (5.1)	5 (4.7)	1 (3.9)	3 (4.7)	6 (5.1)
A2 (17-40 yr)	14 (66.7)	51 (64.6)	68 (63.6)	16 (61.5)	41 (65.1)	76 (64.4)
A3 (> 40 yr)	6 (28.6)	24 (30.3)	34 (31.7)	9 (34.6)	19 (30.2)	36 (30.5)
Disease location, CD
L1	9 (42.8)	28 (35.4)	38 (35.5)	11 (42.3)	22 (34.9)	42 (35.6)
L2	6 (28.6)	15 (19.0)	21 (19.6)	7 (26.9)	12 (19.0)	24 (20.3)
L3	6 (28.6)1	36 (45.6)	48 (44.9)	8 (30.8)2	29 (46.0)	52 (44.1)
L4	2 (9.5)	7 (8.9)	9 (8.4)	2 (7.7)	6 (9.5)	10 (8.5)
Disease behavior, CD
B1	6 (28.6)	24 (30.4)	33 (30.8)	8 (30.8)	19 (30.2)	36 (30.5)
B2	9 (42.8)	32 (40.5)	44 (41.1)	11 (42.3)	26 (41.2)	48 (40.7)
B3	6 (28.6)	23 (29.1)	30 (28.1)	7 (26.9)	18 (28.6)	34 (28.8)
P	5 (23.8)	18 (22.9)	24 (22.4)	3 (11.5)3	16 (25.3)	28 (23.7)

Genotype frequencies in patients and controls were compared using the χ² test;

¹P = 0.014 CC vs CT TT;

²P = 0.022 AA vs AC CC;

³P = 0.029 AA vs AC CC. CD: Crohn’s disease.

Table 5 Genotype frequencies of rs962917 and rs1545620 SNPs in ulcerative colitis phenotypes, n (%)

UC (n = 235)	rs962917			rs1545620
	CC (17)	CT (84)	TT (134)	AA (37)	AC (65)	CC (133)
Age, UC
A1 (< 16 yr)	0 (0)	1 (1.1)	3 (2.2)	1 (2.7)	1 (1.5)	2 (1.5)
A2 (17-40 yr)	9 (52.9)	49 (58.4)	69 (51.5)	17 (45.9)	37 (56.8)	73 (54.9)
A3 (> 40 yr)	8 (47.1)	34 (40.5)	62 (46.3)	19 (51.4)	27 (41.5)	58 (43.6)
Disease location, UC
Proctitis	4 (23.5)	23 (27.4)	44 (32.8)	11 (29.7)	20 (30.8)	40 (30.1)
Left-sided	7 (41.2)	39 (46.4)	57 (42.6)	16 (43.2)	28 (43.1)	59 (44.4)
Extensive	6 (35.3)	22 (26.2)	33 (24.6)	10 (27.1)	17 (26.1)	34 (25.5)

χ² test was applied to compare the number of genotypes between patients and controls; All P values were > 0.05.

Table 6 Association of MYO9B variants with intestinal permeability in IBD, n (%)

IBD		rs962917			rs1545620
		CC (17)	CT (84)	TT (134)	AA (37)	AC (65)	CC (133)
UC (n = 235)	L/M ≥ 0.03	10 (58.8)	38 (45.2)	71 (53.0)	16 (43.2)	30 (46.2)	73 (54.9)
	L/M < 0.03	7 (41.2)	46 (54.8)	63 (47.0)	21 (56.8)	35 (53.8)	60 (45.1)
CD (n = 207)		CC (21)	CT (79)	TT (107)	AA (26)	AC (63)	CC (118)
	L/M ≥ 0.03	9 (42.9)	42 (53.2)	59 (55.1)	12 (46.2)	33 (52.4)	65 (55.1)
	L/M<0.03	12 (57.1)	37 (46.8)	48 (44.9)	14 (53.8)	30 (47.6)	53 (44.9)

χ² test was applied to compare the number of genotypes between patients and controls; All P values were > 0.05. IBD: Inflammatory bowel disease; CD: Crohn’s disease.