Targeted genotyping for the prediction of celiac disease autoimmunity development in patients with type 1 diabetes and their family members

Table 1 Demographic data: Participants with type 1 diabetes and their first-degree relatives n (%)

Demographics	T1D only (n = 280)	T1D + CD (n = 22)	FDR only (n = 689)	FDR +CDA (n = 36)
White	249 (88.9)	22 (100)	629 (91.3)	35 (97.2)
Not hispanic	188 (67.1)	15 (68.2)	451 (65.5)	27 (75.0)
Female	178 (63.6)	17 (77.3)	409 (59.4)	26 (72.2)
Age at screening (yr), median (range)	19 (2-72)	14.5 (7-43)	40 (1-74)	39.5 (3-55)
Age at diagnosis of T1D (yr), median (range)	10 (0.1-64)	6.5 (1-21)
Presence of gastrointestinal symptoms (GI sx)	113 (40.5)	6 (27.3)	216 (31.4)	13 (36.1)
Presence of extraintestinal symptoms (Ex sx)	78 (27.9)	3 (13.6)	176 (25.5)	7 (19.4)
Both GI and Ex symptoms	56 (20)	3 (13.6)	98 (14.2)	4 (11.1)
Asymptomatic	144 (51.6)	16 (72.7)	394 (57.3)	20 (55.6)
Human leukocyte antigen (HLA) genotype
DR3-DQ2	49 (18)	2 (9.1)	148 (21.8)	10 (28.6)
DR3-DQ2 homozygote	18 (6.6)	3 (13.6)	25 (3.7)	3 (8.6)
DR7-DQ2	12 (4.4)	1 (4.6)	41 (6.1)	2 (5.7)
DR7-DQ2 homozygote	2 (0.7)	0 (0)	13 (1.9)	0 (0)
DR3/DR7-DQ2 homozygote	1 (0.37)	0 (0)	20 3.0)	3 (8.6)
DR4-DQ8	83 (30.5)	5 (22.7)	205 (30.2)	10 (28.6)
DR3-DQ2/DR4-DQ8	70 (25.7)	7 (31.8)	50 (7.4)	6 (17.1)
DR7-DQ2/DR4-DQ8	6 (2.2)	4 (18.2)	33 (4.9)	0 (0)
DQ2/DQ8 negative	31 (11.4)	0 (0)	142 (20.9)	1 (2.9)
Haptoglobin genotype (HP) (Zonulin)
HP 1-1	46 (16.4)	2 (9.1)	120 (17.4)	8 (22.2)
HP 2-1	118 (42.1)	10 (45.5)	278 (40.4)	21 (58.3)
HP 2-2	116 (41.4)	10 (45.5)	290 (42.2)	7 (19.4)
Any HP2	234 (83.6)	20 (90.9)	568 (82.6)	28 (77.7)

T1D: Type 1 diabetes; CDA: Celiac disease autoimmunity; FDRs: First-degree relatives; GI sx: Gastrointestinal Symptoms; Ex sx: Extraintestinal Symptoms; HLA: Human leukocyte antigen; HP: Haptoglobin genotype.