Journal Article

Risk of Pediatric Celiac Disease According to HLA Haplotype and Country

Liu, Edwin, Bonifacio, Ezio, Agardh, Daniel, Rewers, Marian J, Aronsson, Carin A, Lee, Hye-Seung, Simell, Ville, Bingley, Polly J, Koletzko, Sibylle, Hagopian, William A, Eisenbarth, George S

2014

Overview

In this cohort study involving 6403 children at increased risk for celiac disease on the basis of HLA haplotype, the risks of celiac disease autoimmunity and celiac disease by the age of 5 years were 26% and 12%, respectively, in those who were homozygous for the DR3–DQ2 haplotype. Patients with celiac disease or type 1 diabetes often carry at least one copy of HLA haplotype DR3–DQ2.5 cis (DRB1*03-DQA1*05:01-DQB1*02:01) or DR4–DQ8 (DRB1*04-DQA1*03-DQB1*03:02). The DR3–DQ2.5 cis haplotype (characterized by the cis arrangement of DQA1*05:01 and DQB1*02:01 on the same copy of chromosome 6) is present in more than 90% of patients with celiac disease. The remainder of patients with this disease carry either the aforementioned HLA haplotype DR4–DQ8 or the DQ2.5 risk alleles but in trans on the genotype DR7–DQ2.2 (DR7-DQA1*02:01-DQB1*02:02)/DR5–DQ3.5 (DR5-DQA1*05:01-DQB1*03:01). The identification of one of these haplotypes is not, by itself, sufficient for the diagnosis of celiac disease, . . .

• Publisher: Massachusetts Medical Society
• Subject: Age / Antibodies / Antibodies - blood / Autoimmune diseases / Autoimmune Diseases - epidemiology / Autoimmune Diseases - genetics / Autoimmunity / Biological and medical sciences / Biopsy / Celiac disease / Celiac Disease - epidemiology / Celiac Disease - genetics / Child, Preschool / Children / Children & youth / Clinical Medicine / Diabetes mellitus / Endocrinology and Diabetes / Endokrinologi och diabetes / Environmental factors / Europe - epidemiology / Female / Gastroenterology. Liver. Pancreas. Abdomen / General aspects / Genetic Predisposition to Disease / Genotype & phenotype / Genotypes / Haplotypes / Heterozygotes / Histocompatibility antigen HLA / HLA-DQ Antigens - genetics / HLA-DR3 Antigen - genetics / HLA-DR4 Antigen - genetics / Homozygote / Homozygotes / Humans / Immune system / Infant / Infant, Newborn / Kaplan-Meier Estimate / Klinisk medicin / Male / Medical and Health Sciences / Medical sciences / Medicin och hälsovetenskap / Other diseases. Semiology / Pediatrics / Prospective Studies / Risk / Small intestine / Stomach. Duodenum. Small intestine. Colon. Rectum. Anus / Transglutaminase 2 / Transglutaminases - immunology / United States - epidemiology