Genetic polymorphisms of MAFK, encoding a small Maf protein, are associated with susceptibility to ulcerative colitis in Japan

Table 1 Condition of PCR and SSCP

Primer set	PCR condition	SSCP temperature
(rs4268033)
5'-TAATCCCAACTCGCAGCATCTGTGT-3'	96 °C 15 s, 60 °C 30 s, 72 °C 30 s	6 °C
5'-GGTCTGACTTAGCTGGGGAAAGTGC-3'	35 cycle
(rs3735656)
5'-ATCTCAGCGGACACAGGCAGGA-3'	96 °C 15 s, 54 °C 40 s, 72 °C 30 s	6 °C
5'-CTGCACTGACCACAGTTGGTGAGAA-3'	35 cycle
(rs10226620)
5'-GTCCCTCCTGTGACTGGGGTCTCT-3'	96 °C 15 s, 60 °C 30 s, 72 °C 30 s	6 °C
5'-AGGCACCACCTTGCAGGTCTTATGT-3'	35 cycle

Table 2 Characteristics of the subjects and allelic frequency

	Controls	IBM controls	UC cases
Number of sample	748	360	226
Mean age ± SD	57.1 ± 17.0	58.5 ± 14.5	40.7 ± 14.2a
(age of onset)			(33.6 ± 13.5)
Male:female	438:310	165:195b	125:101
rs4268033 G>A
GG	366	184	101
GA	324	156	89
AA	58	20	36c
A allele freqency	29.40%	27.20%	35.6%d
rs3735656 T>C
TT	329	168	103
TC	346	162	90
CC	73	30	33
C allele freqency	32.90%	30.80%	34.50%
rs10226620 C>T
CC	345	171	104
CT	328	159	94
TT	75	30	28
T allele freqency	32.00%	30.40%	33.20%

^aP < 0.0001 vs controls and IBM controls;

^bP < 0.0001 vs controls and P = 0.027 vs UC cases;

^cP = 0.0005 vs controls and P < 0.0001 vs IBM controls;

^dP = 0.015 vs controls and P = 0.0027 vs IBM controls. UC: Ulcerative colitis.

Table 3 Association between MAFK polymorphisms and ulcerative colitis

	Genotype (n)			AA vs others		Genotype (n)			CC vs others		Genotype (n)			TT vs others
	GG	GA	AA	OR (95%CI); P value		TT	TC	CC	OR (95%CI); P value		CC	CT	TT	OR (95%CI); P value
rs4268033 G>A
Controls (748)	366	324	58	Reference	-
IBM controls (358)	184	156	18	0.682 (0.402-1.16); P = 0.16	Reference
UC cases (226)	101	89	36	2.63 (1.61-4.30); P = 0.0001	3.54 (1.82-6.88); P = 0.0002
rs3735656 T>C
Controls (748)						329	346	73	Reference	-
IBM controls (358)						168	162	28	0.789 (0.503-1.24); P = 0.30	Reference
UC cases (174)						103	90	33	1.81 (1.12-2.94); P = 0.015	2.14 (1.16-3.95); P = 0.015
rs10226620 C>T
Controls (748)											345	328	75	Reference	-
IBM controls (358)											171	159	28	0.764 (0.488-1.20); P = 0.24	Reference
UC cases (174)											104	94	28	1.37 (0.822 - 2.28); P = 0.23	1.57 (0.827 - 3.00); P = 0.17

UC: Ulcerative colitis.

Table 4 Association between rs4268033 and phenotype of ulcerative colitis

	Genotype (n)			AA vs others
	GG	GA	AA	OR (95%CI)	P value
Controls (748)	366	324	58	Reference	-
Age of onset
20 (31)	16	12	3	2.06 (0.499-8.52)	0.32
21 (176)	76	71	29	2.51 (1.51-4.19)	0.0004
Unknown (19)
Clinical type
Not continuous (124)	51	52	21	2.92 (1.63-5.25)	0.0003
Continuous (97)	46	36	15	2.32 (1.20-4.48)	0.012
Unknown (5)
Extension
Not total colitis (115)	50	46	19	2.72 (1.48-5.00)	0.0013
Total colitis (105)	49	41	15	2.18 (1.14-4.16)	0.019
Unknown (6)
Hospitalization
None (139)	59	59	21	2.34 (1.32-4.14)	0.0035
One time £ (76)	36	27	13	2.91 (1.42-5.97)	0.0034
Unknown (11)
Past max. UCDAI score
8 (135)	56	58	21	2.41 (1.36-4.27)	0.0025
9 (81)	40	27	14	3.01 (1.49-6.05)	0.002
Unknown (10)

UC: Ulcerative colitis.