PMID- 19915493 OWN - NLM STAT- MEDLINE DCOM- 20100617 LR - 20220310 IS - 1536-4801 (Electronic) IS - 0277-2116 (Linking) VI - 50 IP - 1 DP - 2010 Jan TI - Screening detects a high proportion of celiac disease in young HLA-genotyped children. PG - 49-53 LID - 10.1097/MPG.0b013e3181b477a6 [doi] AB - BACKGROUND AND AIMS: Celiac disease is associated with tissue transglutaminase autoantibodies (tTGAb) and the human leukocyte antigen (HLA)-risk alleles DQB1*02 and DQB1*0302. The aim was to estimate the proportion of undiagnosed celiac disease in children with HLA risk at 3 years of age. PATIENTS AND METHODS: From a population-based HLA-DQ screening study of newborns born between June 2001 and August 2004 in the southern part of Sweden, 6206 children with HLA-risk alleles were identified and asked to participate at a mean 3.3 +/- 0.4 years of age. As controls, 7654 children with HLA-nonrisk alleles were asked to participate. In all, 1620 (26.1%) children with HLA risk and 1815 (23.7%) controls were screened for tTGAb using radioligand-binding assays. Celiac disease was established by intestinal biopsy in children with a confirmed positive tTGAb test. RESULTS: Twenty-three children reported already having clinically diagnosed celiac disease and did not participate further. In children with HLA-risk genotypes, 73 of 1620 (4.5%, 95% CI 3.5%-5.5%) were tTGAb-positive compared with none of 1815 from the controls (P < 0.0001). Seventy-one children underwent biopsy (1 refused biopsy and 1 biopsy failed), of whom 56 of 1618 (3.5%, 95% CI 2.6%-4.4%) had damaged intestinal mucosa classified as celiac disease. The ratio between clinically and screening detected celiac disease in this study was 1:2.4 (23:56). CONCLUSIONS: The proportion of clinically undetected celiac disease may be particularly high among 3-year-old children with HLA-DQB1*02 and DQB1*0302 in Sweden, where these 2 HLA-risk alleles frequently occur. FAU - Bjorck, Sara AU - Bjorck S AD - Unit of Diabetes and Celiac Disease, Department of Clinical Sciences, University Hospital MAS, Lund University, Malmo, Sweden. FAU - Brundin, Charlotte AU - Brundin C FAU - Lorinc, Ester AU - Lorinc E FAU - Lynch, Kristian F AU - Lynch KF FAU - Agardh, Daniel AU - Agardh D LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - J Pediatr Gastroenterol Nutr JT - Journal of pediatric gastroenterology and nutrition JID - 8211545 RN - 0 (Autoantibodies) RN - 0 (HLA-DQ Antigens) RN - EC 2.3.2.13 (Transglutaminases) SB - IM CIN - J Pediatr Gastroenterol Nutr. 2010 Aug;51(2):242. PMID: 20661080 MH - Autoantibodies/*genetics/metabolism MH - Biopsy MH - Celiac Disease/*diagnosis/epidemiology/genetics/immunology MH - Child, Preschool MH - Genetic Predisposition to Disease MH - Genetic Testing MH - *Genotype MH - HLA-DQ Antigens/*genetics MH - Humans MH - Intestinal Mucosa/pathology MH - Mass Screening MH - Sweden/epidemiology MH - Transglutaminases/immunology EDAT- 2009/11/17 06:00 MHDA- 2010/06/18 06:00 CRDT- 2009/11/17 06:00 PHST- 2009/11/17 06:00 [entrez] PHST- 2009/11/17 06:00 [pubmed] PHST- 2010/06/18 06:00 [medline] AID - 10.1097/MPG.0b013e3181b477a6 [doi] PST - ppublish SO - J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):49-53. doi: 10.1097/MPG.0b013e3181b477a6.