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TABLE 1

The frequency of HLA class II genotypes in 32 individuals with a defined mutation in KCNJ11 and in 155 negative for mutations in KCNJ11 46 diagnosed before and 109 after the age of 6 months

KCNJ11 Mut +veKCNJ11 Mut–ve (0–6 months)Kir6.2 Mut–ve (>6 months)Healthy control subjects
n 32 47 108 621 
Genotype     
DR4-DQ8/DR3-DQ2 1 (3%) 4 (9%) 54 (50%) 17 (3%) 
DR4-DQ8/X 6 (19%) 7 (15%) 18 (16%) 85 (14%) 
DR3-DQ2/X 7 (22%) 7 (15%) 30 (28%) 167 (26%) 
X/X 13 (40%) 21 (44%) 2 (2%) 249 (40%) 
DR2-DQ6/ DR2-DQ6 or DR2-DQ6/X 5 (16%) 8 (17%) 4 (4%) 103 (17%) 
KCNJ11 Mut +veKCNJ11 Mut–ve (0–6 months)Kir6.2 Mut–ve (>6 months)Healthy control subjects
n 32 47 108 621 
Genotype     
DR4-DQ8/DR3-DQ2 1 (3%) 4 (9%) 54 (50%) 17 (3%) 
DR4-DQ8/X 6 (19%) 7 (15%) 18 (16%) 85 (14%) 
DR3-DQ2/X 7 (22%) 7 (15%) 30 (28%) 167 (26%) 
X/X 13 (40%) 21 (44%) 2 (2%) 249 (40%) 
DR2-DQ6/ DR2-DQ6 or DR2-DQ6/X 5 (16%) 8 (17%) 4 (4%) 103 (17%) 

Control data are provided for 621 healthy Caucasians. The genotypes HLA DRB1*04-DQB1*0302/ HLA DRB1*03-DQB1*0201, HLA DRB1*04-DQB1*0302/X, and HLA DRB1*03-DQB1*0201/X are described as DR4-DQ8/DR3-DQ2, DR4-DQ8/X, and DR3-DQ2/X, respectively, where X is not DRB1*02-DQB1*0602 (DR2-DQ6). +ve, mutation present; −ve, mutation not detected by sequencing.

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