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Cumulative risk of developing celiac autoimmunity or celiac disease by five years of age by HLA haplotype

Cumulative risk of developing celiac autoimmunity or celiac disease by five years of age by HLA haplotype
HLA DR-DQ genotype Celiac disease autoimmunity* Celiac disease Adjusted hazard ratio for celiac disease autoimmunityΔ Adjusted hazard ratio for celiac diseaseΔ

DR3–DQ2/DR3-DQ2

(n = 1374, 21%)		 26% 11%

5.70

(95% CI 4.66-6.97)

6.08

(95% CI 4.43-8.36)

DR3-DQ2/DR4-DQ8

(n = 2612, 41%)		 11% 3%

2.09

(95% CI 1.7-2.56)

1.66

(95% CI 1.18-2.33)

DR4-DQ8/DR4-DQ8

(n = 1303, 20%)		 9% 3% 1.00 1.00

DR4-DQ8/DR8-DQ4

(n = 1114, 17%)		 2% <1% 1.00 1.00
Results from a prospective study of 6403 children with HLA haplotype DR3-DQ2 or DR4-DQ8, living in the United States, Finland, Germany, or Sweden, which evaluated the risk of celiac disease by haplotype (TEDDY study).
HLA: human leukocyte antigen.
* Celiac disease autoimmunity was defined as the presence of tissue transglutaminase (tTG) antibodies on two consecutive tests at least three months apart.
¶ Celiac disease was defined as abnormal results of an intestinal biopsy (Marsh score ≥2) in 291 subjects. For patients with celiac autoimmunity who did not undergo biopsy, celiac disease was diagnosed if tTG was ≥100 units on two consecutive tests (21 subjects).
Δ Adjusted for sex, family history of celiac disease, and country of origin, with the two lowest-risk haplotypes as the reference group.
Based on data from: Liu E, Lee HS, Aronsson CA, et al. Risk of pediatric celiac disease according to HLA haplotype and country. N Engl J Med 2014; 371:42.
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