Role of PTPN2/22 polymorphisms in pathophysiology of Crohn’s disease

Table 1 Demographics and results of mycobacterium avium subspecies paratuberculosis presence and frequency of PTPN2:rs478582/PTPN22:rs2476601 in CD subjects

Sample code	Gender	Age	Diagnosis	MAP +/-	PTPN2:rs478582	PTPN22:rs2476601
RCS1	M	50	CD	-	TC	GA
RCS2	F	25	CD	-	TC	GA
RCS3	F	68	CD	+	TC	GG
RCS4	M	26	CD	+	CC	GG
RCS5	F	56	CD	+	CC	GG
RCS6	NA	NA	CD	+	TC	GG
RCS7	M	60	CD	+	TC	GG
RCS8	M	43	CD	+	TC	GG
RCS9	F	54	CD	-	CC	GG
RCS10	F	31	CD	NA	TC	GG
RCS11	M	21	CD	+	NA	GG
RCS12	M	25	CD	+	CC	GG
RCS13	F	40	CD	+	TC	GG
RCS14	M	36	CD	+	TC	GG
RCS15	NA	NA	CD	-	CC	GA
RCS16	F	25	CD	+	TC	GG
RCS17	F	27	CD	+	TC	GG
RCS18	M	20	CD	-	TT	GG
RCS19	M	25	CD	+	CC	GA
RCS20	F	41	CD	-	TC	GG
RCS21	M	20	CD	-	TT	GG
RCS22	M	40	CD	-	TC	GG
RCS23	M	30	CD	-	TC	GG
RCS24	F	60	CD	+	TC	GG
RCS25	F	39	CD	+	TT	GG
RCS26	F	30	CD	+	CC	GA
RCS27	F	43	CD	+	CC	GG
RCS28	M	30	CD	+	TC	GA
RCS29	M	28	CD	+	TC	GG
RCS30	M	66	CD	+	TT	GG
RCS31	M	53	CD	-	TT	GG
RCS32	M	28	CD	-	TC	GA
RCS33	F	38	CD	+	CC	GG
RCS34	M	44	CD	-	CC	GA
RCS35	M	53	CD	-	TC	GG
RCS36	M	24	CD	+	TC	GG
RCS37	F	51	CD	+	TC	GG
RCS38	F	46	CD	+	TC	GG
RCS39	M	24	CD	-	CC	GG
RCS40	F	63	CD	+	TC	GG
RCS41	F	25	CD	-	TC	GG
RCS42	F	66	CD	-	TC	GG
RCS43	F	27	CD	+	TC	GG
RCS44	F	25	CD	+	TC	GG
RCS45	F	38	CD	+	TC	GG
RCS46	F	26	CD	-	CC	AA
RCS47	M	54	CD	+	TT	GA
RCS48	F	31	CD	+	TC	GG
RCS49	M	56	CD	-	CC	GG
RCS50	F	53	CD	-	TC	GG
RCS51	F	51	CD	-	TT	GA
RCS52	F	23	CD	+	TC	GG
RCS53	M	26	CD	+	TC	GG
RCS54	M	38	CD	-	TT	GG
RCS55	F	31	CD	+	TC	GG
RCS56	M	61	CD	+	TC	GG
RCS57	F	24	CD	+	TC	GG
RCS58	M	57	CD	-	CC	GG
RCS59	F	30	CD	+	TT	GG
RCS60	M	51	CD	-	CC	GG
RCS61	F	55	CD	-	CC	GG
RCS62	F	61	CD	-	TT	GG
RCS63	F	31	CD	+	TC	GG
RCS64	F	56	CD	NA	TC	GG
RCS65	M	25	CD	+	NA	NA
RCS66	F	53	CD	+	NA	NA
RCS67	M	30	CD	-	TC	GG
RCS68	F	49	CD	-	CC	GG
RCS69	M	28	CD	+	TT	GG
RCS70	M	26	CD	+	TT	GG
RCS71	M	26	CD	+	CC	GG
RCS72	M	58	CD	+	CC	GG

CD: Crohn’s disease; TT: Homozygous major allele/no SNP; TC: Heterozygous allele; CC: Homozygous minor allele; GG: Homozygous major allele/no SNP; GA: Heterozygous allele; AA: Homozygous minor allele; MAP: Mycobacterium avium subspecies paratuberculosis.

Table 2 MAP IS900 nPCR presence and correlation with PTPN2:rs478582/PTPN22:rs2476601 in clinical subjects

MAP presence
	Healthy	CD	OR (95%CI)
Overall	4/48 (9.33%)	43/70 (61.4%)a	17.5 (5.65–54.3)a
rs478582
TT	2/17 (11.8%)	6/12 (50%)a	7.5 (1.17-48.2)a
TC	0/22 (0%)	25/37 (67.6%)	91.8 (5.14-1604.3)a
CC	2/8 (25%)	9/19 (47.4%)	2.7 (0.43-16.9)
TC + CC	2/30 (6.67%)	34/56 (60.7%)a	21.6 (4.68-100.1)a
rs2476601
GG	4/59 (6.78%)	33/59 (55.9%)a	17.6 (5.59-54.4)a
GA	0/4 (0%)	3/10 (30.0%)	4.2 (0.17-101.5)
AA	0/1 (0%)	0/1 (0%)	1.00 (0.02-92.4)
GA + AA	0/5 (0%)	3/11 (27.3%)	4.53 (0.19-105.8)
Haplotypes
T-G	2/15 (13.3%)	5/10 (50.0%)a	6.5 (0.94-45.1)a
C-G	2/29 (6.90%)	31/46 (67.4%)a	30.0 (6.3-142.6)a
T-A	0/2 (0%)	1/2 (50.0%)	5.00 (0.11-220.6)
C-A	0/2 (0%)	3/9 (33.3%)	2.69 (0.1-73.2)

^aP < 0.05 vs healthy.