OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease

Table 1 Primer sequences for SSP-PCR genotyping

SNP	Primers	PCR product (bp)
OCTN1 1672C/T	W: TCTGACTGTCCTGATTGGAATCC	Allel C: 518 bp
(rs1050152)	S: TAGTCTGACTGTCCTGATTGGAATCT	Allel T: 520 bp
	C: TTTTGAGACGGAGTTTTGCTCTTGT
OCTN2 -207G/C	W: GCACGACCAGGGAAGGTTG	Allel G: 493 bp
(rs2631367)	S: GCACGACCAGGGAAGGTTC	Allel C: 493 bp
	C: TCCCAGCCTCTCTACTAGGGTAGTT
R702W 2104C/T	W: CTGAGAAGGCCCTGCTCC	Allel C: 396 bp
(rs2066844)	S: CATCTGAGAAGGCCCTGCTCT	Allel T: 399 bp
	C: CAATGCCCAGTAACACTCACTACAG
G908R 2722G/C	W: TGGCCTTTTCAGATTCTGGG	Allel G: 308 bp
(rs2066845)	S: TGGCCTTTTCAGATTCTGGC	Allel C: 308 bp
	C: TGTATCAAAACCCTGAGAGGACAA

Table 2 Primer sequences and restriction enzymes used for RFLP genotyping

SNP	Primers	Restriction enzyme	Length of restriction fragments
OCTN1 1672C/T	F: CGTCATGGGTAGTCTGACTGTCCTGATTGGGATC	BamH I	Allel C: 30 + 88 bp
(rs1050152)	R: TCCTACTTACCATTTCACTTTCTGCATCTGCTCTAAGG		Allel T: 118 bp
OCTN2 -207G/C	F: GCGCCGCTCTGCCTGCCAG	Msp I	Allel G: 44 + 83 bp
(rs2631367)	R: AGGGTAGGCTCGCGAGCTGACACC		Allel C: 127 bp
R702W 2104C/T	F: TGGGGCCTGCTGGCTGAGTG	Msp I	Allel C: 76 + 45 bp
(rs2066844)	R: GTGCAGCTGGCGGGATGGAG		Allel T: 121 bp
G908R 2722G/C	F: TCTGGCTGGGACTGCAGAGG	BstU I	Allel G: 131 bp
(rs2066845)	R: CCCCTCGTCACCCACTCTGTCGC		Allel C: 109 + 22 bp

Table 3 Demographics and phenotype of IBD patients

	CD patients		UC patients
	(n = 61)		(n = 151)
Sex (M:F)	40:21		91:60
Median age (yr, mean ± SD)	36.9 ± 13.7		43.8 ± 13.4
Patients with relative(s) who have IBD	0		2 (1.3%)
Location of CD		Location of ulcerative colitis
Small bowel only (%)	25 (41.0)	Rectum sigmoid colon	86 (57.0)
Colon only (%)	7 (11.5)	Left hemicolon	18 (11.9)
Small bowel & colon (%)	29 (47.5)	Extensive	47 (31.1)
Behaviour of Crohn’s disease (%)		Severe criteria of ulcerative colitis
Non-stricturing, non-penetrating (%)	26 (42.6)	Mild	74 (49.0)
Penetrating (%)	15 (24.6)	Moderate	57 (37.7)
Stricturing (%)	19 (31.1)	Severe	20 (13.2)
Stricturing & penetrating (%)	1 (1.6)

Table 4 Genotype and allele results

SNP	Group	Cases	Genotype			Allele
OCTN1			C/C	C/T	T/T	C	T
1672C/T	CD	61	61	0	0	122	0
(rs1050152)	UC	151	151	0	0	302	0
	Control	200	200	0	0	400	0
OCTN2			G/G	G/C	C/C	G	C
-207G/C	CD	61	61	0	0	122	0
(rs2631367)	UC	151	151	0	0	302	0
	Control	200	200	0	0	400	0
R702W			C/C	C/T	T/T	C	T
2104C/T	CD	61	61	0	0	122	0
(rs2066844)	UC	151	151	0	0	302	0
	Control	200	200	0	0	400	0
G908R			G/G	G/C	C/C	G	C
2722G/C	CD	61	61	0	0	122	0
(rs2066845)	UC	151	151	0	0	302	0
	Control	200	200	0	0	400	0