Table 3 Main clinical characteristics of JIA population in relation to VDR polymorphisms.

From: Study of vitamin D status and vitamin D receptor polymorphisms in a cohort of Italian patients with juvenile idiopathic arthritis

 

Number of patients

ApaI

BsmI

Cdx2

FokI

TaqI

JIA subtype

Oligoarticular JIA

46

TT 27 (58.7%)

GG 11 (23.9%)

GG 26 (56.5%)

CC 22 (47.8%)

TT 11 (23.9%)

TG 17 (37.0%)

GA 28 (60.9%)

GA 17 (37.0%)

CT 17 (37.0%)

TC 25 (54.3%)

GG 2 (4.3%)

AA 7 (15.2%)

AA 3 (6.5%)

TT 7 (15.2%)

CC 10 (21.8%)

Extended oligoarticular JIA

8

TT 2 (25.0%)

GG 3 (37.5%)

GG 5 (62.5%)

CC 5 (62.5%)

TT 2 (25.0%)

TG 5 (62.5%)

GA 4 (50.0%)

GA 3 (37.5%)

CT 2 (25.0%)

TC 4 (50.0%)

GG 1 (12.5%)

AA 1 (12.5%)

AA 0 (0%)

TT 1 (12.5%)

CC 2 (25.0%)

Polyarticular JIA

33

TT 16 (48.5%)

GG 9 (27.2%)

GG 19 (57.6%)

CC 16 (48.5%)

TT 16 (48.5%)

TG 10 (30.3%)

GA 19 (57.6%)

GA 13 (39.4%)

CT 15 (45.4%)

TC 11 (33.3%)

GG 7 (21.2%)

AA 5 (15.2%)

AA 1 (3.0%)

TT 2 (6.1%)

CC 6 (18.2%)

Psoriatic arthritis

7 (4 of them oligo, 1 poly and 2 not indicated)

TT 4 (57.1%)

GG 5 (71.4%)

GG 4 (57.1%)

CC 1 (14.3%)

TT 2 (28.6%)

TG 1 (14.3%)

GA 1 (14.3%)

GA 2 (28.6%)

CT 4 (57.1%)

TC 2 (28.6%)

GG 2 (28.6%)

AA 1 (14.3%)

AA 1 (14.3%)

TT 2 (28.6%)

CC 3 (42.8%)

Enthesitis-related arthritis (ERA)

6

TT 3 (50.0%)

GG 2 (33.3%)

GG 4 (66.7%)

CC 2 (33.3%)

TT 2 (33.3%)

TG 2 (33.3%)

GA 2 (33.3%)

GA 2 (33.3%)

CT 3 (50%)

TC 2 (33.3%)

GG 1 (16.7%)

AA 2 (33.3%)

AA 0 (0%)

TT 1 (16.7%)

CC 2 (33.3%)

Patients for whom the specific JIA subtype has not been reported in the clinical database

3

TT 1 (33.3%)

GG 1 (33.3%)

GG 2 (66.7%)

CC 0 (0%)

TT 2 (66.7%)

TG 2 (66.7%)

GA 2 (66.7%)

GA 0 (0%)

CT 3 (100%)

TC 1 (33.3%)

GG 0 (0%)

AA 0 (0%)

AA 1 (33.3%)

TT 0 (0%)

CC 0 (0%)

JIA clinical presentation

Non-active disease

57

TT 29 (50.9%)

GG 15 (26.3%)

GG 33 (57.9%)

CC 27 (47.4%)

TT 20 (35.1%)

TG 20 (35.1%)

GA 35 (61.4%)

GA 22 (38.6%)

CT 25 (43.8%)

TC 27 (47.4%)

GG 8 (14.0%)

AA 7 (12.3%)

AA 2 (3.5%)

TT 5 (8.8%)

CC 10 (17.5%)

Active disease

46

TT 24 (52.1%)

GG 16 (34.8%)

GG 27 (58.7%)

CC 19 (41.3%)

TT 15 (32.6%)

TG 17 (37%)

GA 21 (45.7%)

GA 15 (32.6%)

CT 19 (41.3%)

TC 18 (39.1%)

GG 5 (10.9%)

AA 9 (19.5%)

AA 4 (8.7%)

TT 8 (17.4%)

CC 13 (28.3%)

Serum 25(OH) vitamin D

Vitamin D deficiency

4

TT 2 (50%)

GG 2 (50%)

GG 2 (50%)

CC 1 (25%)

TT 1 (25%)

TG 1 (25%)

GA 1 (25%)

GA 2 (50%)

CT 3 (75%)

TC 1 (25%)

GG 1 (25%)

AA 1 (25%)

AA 0 (0%)

TT 0 (0%)

CC 2 (50%)

Vitamin D insufficiency

83

TT 44 (53.0%)

GG 24 (28.9%)

GG 50 (60.3%)

CC 37 (44.6%)

TT 30 (36.1%)

TG 25 (30.1%)

GA 45 (54.2%)

GA 27 (32.5%)

CT 36 (43.4%)

TC 35 (42.2%)

GG 14 (16.9%)

AA 14 (16.9%)

AA 6 (7.2%)

TT 10 (12.0%)

CC 18 (21.7%)

Vitamin D sufficiency

15

TT 6 (40.0%)

GG 4 (26.7%)

TT 3 (20.0%)

GG 7 (46.7%)

CC 7 (46.7%)

TG 9 (60.0%)

GA 10 (66.7%)

TC 9 (60.0%)

GA 8 (53.3%)

CT 5 (33.3%)

GG 0 (0%)

AA 1 (6.6%)

CC 3 (20.0%)

AA 0 (0%)

TT 3 (20.0%)

Vitamin D high level (> 100 ng/ml)

1

TT 0 (0%)

GG 1 (100%)

TT 0 (0%)

GG 1 (100%)

CC 1 (100%)

TG 1 (100%)

GA 0 (0%)

TC 1 (100%)

GA 0 (0%)

CT 0 (0%)

GG 0 (0%)

AA 0 (0%)

CC 0 (0%)

AA 0 (0%)

TT 3 (0%)

Bone status

Osteopenia

29

TT 16 (55.2%)

GG 9 (31.0%)

GG 20 (69.0%)

CC 13 (44.9%)

TT 13 (44.9%)

TG 7 (24.1%)

GA 16 (55.2%)

GA 8 (27.6%)

CT 11 (37.9%)

TC 11 (37.9%)

GG 6 (20.7%)

AA 4 (13.8%)

AA 1 (3.4%)

TT 5 (17.2%)

CC 5 (17.2%)

Normal BMD value

73

TT 36 (49.3%)

GG 22 (30.1%)

GG 40 (54.8%)

CC 32 (43.8%)

TT 22 (30.1%)

TG 30 (41.1%)

GA 39 (53.4%)

GA 28 (38.4%)

CT 33 (45.2%)

TC 33 (45.2%)

GG 7 (9.6%)

AA 12 (16.4%)

AA 5 (6.8%)

TT 8 (11.0%)

CC 18 (24.7%)

PTH serum level

Low PTH serum level

6

TT 1 (16.7%)

GG 2 (33.3%)

TT 2 (33.3%)

GG 3 (50.0%)

CC 2 (33.3%)

TG 5 (83.3%)

GA 3 (50.0%)

TC 4 (66.7%)

GA 3 (50.0%)

CT 4 (66.7%)

GG 0 (0%)

AA 1 (16.7%)

CC 0 (0%)

AA 0 (0%)

TT 0 (0%)

Normal PTH value

97

TT 52 (53.6%)

GG 29 (29.9%)

TT 33 (34.0%)

GG 57 (58.8%)

CC 44 (44.4%)

TG 32 (33.0%)

GA 53 (54.6%)

TC 41 (42.3%)

GA 34 (35.0%)

CT 40 (41.2%)

GG 13 (13.4%)

AA 15 (15.5%)

CC 23 (23.7%)

AA 6 (6.2%)

TT 13 (13.4%)