Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy

Table 5 Genotype and allele frequency distribution of ATG16L1 and IL23R SNPs in CD cases stratified by phenotypic subgroups, (n)

SNP/gene genotype	rs2241880 ATG16L1					rs7517847 IL23R					rs11209026 IL23R
	AA (105)	AG (335)	GG (227)	Total (667)	Freq (G) 0.501	GG (52)	GT (305)	TT (366)	Total (723)	Freq (G) 0.283	AA (0)	AG (60)	GG (675)	Total (735)	Freq (A) 0.041
Sex
Male	54	193	126	373	0.597	28	169	212	409	0.275	0	27	390	417	0.032
Female	51	142	101	294	0.585	24	136	154	314	0.293	0	33	285	318	0.052
Age at diagnosis (yr)
≤ 16 (A1)	28	72	53	153	0.582	9	76	74	159	0.296	0	9	150	159	0.028
17-40 (A2)	56	180	123	359	0.593	24	160	209	393	0.265	0	29	378	407	0.036
> 40 (A3)	20	71	40	131	0.576	14	57	73	144	0.295	0	19	123	142	0.067
Disease localization
Ileum (L1 ± L4)	28	97	67	192	0.602	12	86	118	216	0.255	0	21	200	221	0.048
Colon (L2 ± L4)	31	92	48	171	0.550	10	76	104	190	0.253	0	18	170	188	0.048
Ileo-colon (L3 ± L4)	43	131	101	275	0.605	25	131	129	285	0.318	0	19	276	295	0.032
Upper GI (L4)	2	4	1	7	0.429	0	2	4	6	0.167	0	0	6	6	0.000
Disease behavior
Inflammatory (B1)	44	154	98	296	0.591	21	133	162	316	0.277	0	25	294	319	0.039
Stricturing (B2)	22	79	46	147	0.582	10	64	82	156	0.269	0	16	145	161	0.050
Penetrating (B3)	38	85	70	193	0.583	17	93	103	213	0.298	0	17	201	218	0.039
Perianal disease
Yes	14	52	37	103	0.612	8	54	59	121	0.289	0	11	113	124	0.044
No	89	269	175	533	0.581	40	233	293	566	0.277	0	46	529	575	0.040
Smoking history
No	57	168	116	341	0.587	24	149	191	364	0.271	0	29	339	368	0.039
Yes	32	105	71	208	0.594	20	100	107	227	0.308	0	20	213	233	0.043
Ex	14	39	30	83	0.596	3	41	49	93	0.253	0	8	88	96	0.042
Surgery
Yes	34	91	68	193	0.588	15	83	113	211	0.268	0	16	202	218	0.037
No	70	231	149	450	0.588	32	211	241	484	0.284	0	42	447	489	0.043

Only patients with at least 2 years of follow-up from diagnosis were included.