Risk of Pediatric Celiac Disease According to HLA Haplotype and Country

This multi-centric cohort study [1] from four countries followed a group of infants with the HLA haplotype DR3– DQ2 or DR4–DQ8, from birth through the first few years of life; seeking the appearance of antibodies to tissue transglutaminase (tTG) (labeled as celiac disease autoimmunity), and development of celiac disease. This was part of a larger study evaluating the development of type 1 diabetes in a cohort of infants with genetic susceptibility (based on carrying the HLA haplotype DR3DQ2 or DR4-DQ8) [2]. Over a median follow-up duration of nearly five years, the investigators reported 12% prevalence of celiac disease autoimmunity and 3% prevalence of celiac disease. They also identified that the respective risks of these two outcomes varied by the HLA genotype: 26% and 11% with homozygosity for DR3-DQ2 haplotype; 11% and 3% with DR3-DQ2/DR4-DQ8 haplotype; 8% and 3% with DR4-DQ8 homozygosity; and 3% and <1% among those with DR4-DQ8/DR8-DQ4 haplotype. There was statistically significant higher risk of celiac disease autoimmunity and celiac disease in infants from Europe (highest risk in Sweden), female gender, and those with family history of celiac disease.