Allele and haplotype frequencies for HLA-DQ in Iranian celiac disease patients

Table 1 Frequency of human leukocyte antigenhaplotypes in Iranian cases and controls n (%)

Genotypes	Cases	Controls	P-value
DQ2.2/DQ2.2	1 (1.7)	0 (0)	0.28
DQ2.2/DQ7	4 (6.8)	8 (5.3)	0.76
DQ2.2/DQX	3 (5.08)	22 (14.5)	0.06
DQ2.5/DQ2.2	7 (11.9)	5 (3.3)	0.04
DQ2.5/DQ2.5	8 (13.6)	1 (0.6)	< 0.001
DQ2.5/DQ7	3 (5.08)	5 (3.3)	0.69
DQ2.5/DQ8	7 (11.9)	5 (3.3)	0.04
DQ2.5/DQX	16 (27.1)	10 (6.6)	< 0.001
DQ7/DQ7	0 (0)	17 (11.2)	0.004
DQ7/DQX	0 (0)	17 (11.2)	0.004
DQ8/DQ2.2	0 (0)	8 (5.3)	0.11
DQ8/DQ7	1 (1.7)	9 (6)	0.29
DQ8/DQ8	2 (3.3)	4 (2.6)	0.67
DQ8/DQX	5 (8.5)	8 (5.3)	0.54
DQX/DQX	2 (3.3)	32 (21.2)	0.001
Total	59 (100)	151 (100)

Table 2 Validation results in the Iranian population using the BAG kit compared to the tag-single nucleotide polymorphism method

		Tag SNP
		Celiac patients	Controls
Number of patients		59	151
DQ 2.2	Sensitivity	100%	100%
	Specificity	100%	100%
DQ 2.5	Sensitivity	100%	100%
	Specificity	97.8%	96.7%
DQ 8	Sensitivity	86.4%	100%
	Specificity	86.4%	97.1%

Table 3 Distribution of human leukocyte antigen haplotypes according to the degrees of mucosal changes

Haplotype		Rostami-Marsh classification			Total	P-value
		Marsh I	Marsh II	Marsh III
HLA-	DQ2.2/DQ2.2	0	0	1	1	0.73
	DQ2.2/DQ7	0	2	2	4	0.46
	DQ2.2/DQX	1	0	2	3	0.2
	DQ2.5/DQ2.2	1	3	3	7	0.06
	DQ2.5/DQ2.5	1	2	5	8	0.46
	DQ2.5/DQ7	2	0	1	3	0.2
	DQ2.5/DQ8	1	1	5	7	0.78
	DQ2.5/DQX	5	2	9	16	0.96
	DQ8/DQ7	0	1	0	1	0.04
	DQ8/DQ8	0	0	2	2	0.53
	DQ8/DQX	0	2	3	5	0.13
	DQX/DQX	1	0	1	2	0.64
Total		12	13	34	59