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Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts.
J Pediatr Gastroenterol Nutr 2016; 62(2):271-5JP

Abstract

OBJECTIVES

Celiac disease (CD) is associated with tissue transglutaminase autoantibodies (tTGAs) in individuals carrying the human leukocyte antigen (HLA) risk haplotypes DQA1*05:01-DQB1*02:01 (DQ2) and/or DQA1*03:01-DQB1*03:02 (DQ8). The aim of the study was to identify CD in an HLA-genotyped birth cohort prospectively screened for CD.

METHODS

In the initial screening, 13,860 HLA-DQ-genotyped children were invited, of whom 3435/13,860 (25%) accepted participation. Of the 3435, 1620 (47%) carried DQ2 and/or DQ8, of whom 73 (4.5%) were tTGA positive assessed in radioligand-binding assays and 56 (3.5%) developed CD. At age 9 years, 13,024 children from the original cohort were re-invited to follow-up screening using the same study protocol and tTGA assays as in the first screening. Diagnosis of CD was confirmed by intestinal biopsy in children with persistent tTGA.

RESULTS

In the follow-up screening, 1910/4077 (46.8%) carried DQ2 and/or DQ8, of whom 79/1910 (4.1%) were persistently tTGA positive and 72/1907 (3.8%) developed CD. Only 1/2167 (0.05%) child without HLA risk was IgG-tTGA positive, but did not have CD. Of the 980/1910 (51%) children carrying DQ2 and/or DQ8 who were already screened at 3 years of age, 30/979 (3.1%) were diagnosed as new patients at 9 years of age, compared with 42/928 (4.5%) children who did not participate in the initial screening (P = 0.094).

CONCLUSIONS

Screening for CD can be restricted to children carrying HLA-DQ2 and/or DQ8. Repeated screening using tTGA is necessary to identify new patients by 9 years of age. These findings may be relevant when considering implementing screening of the general population.

Authors+Show Affiliations

*Unit of Diabetes and Celiac Disease, Department of Clinical Sciences, Lund University, Malmö, Sweden †Health Informatics Institute, University of South Florida, Tampa.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26301618

Citation

Björck, Sara, et al. "Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts." Journal of Pediatric Gastroenterology and Nutrition, vol. 62, no. 2, 2016, pp. 271-5.
Björck S, Lynch K, Brundin C, et al. Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts. J Pediatr Gastroenterol Nutr. 2016;62(2):271-5.
Björck, S., Lynch, K., Brundin, C., & Agardh, D. (2016). Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts. Journal of Pediatric Gastroenterology and Nutrition, 62(2), pp. 271-5. doi:10.1097/MPG.0000000000000946.
Björck S, et al. Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts. J Pediatr Gastroenterol Nutr. 2016;62(2):271-5. PubMed PMID: 26301618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts. AU - Björck,Sara, AU - Lynch,Kristian, AU - Brundin,Charlotte, AU - Agardh,Daniel, PY - 2015/8/25/entrez PY - 2015/8/25/pubmed PY - 2016/11/10/medline SP - 271 EP - 5 JF - Journal of pediatric gastroenterology and nutrition JO - J. Pediatr. Gastroenterol. Nutr. VL - 62 IS - 2 N2 - OBJECTIVES: Celiac disease (CD) is associated with tissue transglutaminase autoantibodies (tTGAs) in individuals carrying the human leukocyte antigen (HLA) risk haplotypes DQA1*05:01-DQB1*02:01 (DQ2) and/or DQA1*03:01-DQB1*03:02 (DQ8). The aim of the study was to identify CD in an HLA-genotyped birth cohort prospectively screened for CD. METHODS: In the initial screening, 13,860 HLA-DQ-genotyped children were invited, of whom 3435/13,860 (25%) accepted participation. Of the 3435, 1620 (47%) carried DQ2 and/or DQ8, of whom 73 (4.5%) were tTGA positive assessed in radioligand-binding assays and 56 (3.5%) developed CD. At age 9 years, 13,024 children from the original cohort were re-invited to follow-up screening using the same study protocol and tTGA assays as in the first screening. Diagnosis of CD was confirmed by intestinal biopsy in children with persistent tTGA. RESULTS: In the follow-up screening, 1910/4077 (46.8%) carried DQ2 and/or DQ8, of whom 79/1910 (4.1%) were persistently tTGA positive and 72/1907 (3.8%) developed CD. Only 1/2167 (0.05%) child without HLA risk was IgG-tTGA positive, but did not have CD. Of the 980/1910 (51%) children carrying DQ2 and/or DQ8 who were already screened at 3 years of age, 30/979 (3.1%) were diagnosed as new patients at 9 years of age, compared with 42/928 (4.5%) children who did not participate in the initial screening (P = 0.094). CONCLUSIONS: Screening for CD can be restricted to children carrying HLA-DQ2 and/or DQ8. Repeated screening using tTGA is necessary to identify new patients by 9 years of age. These findings may be relevant when considering implementing screening of the general population. SN - 1536-4801 UR - https://www.unboundmedicine.com/medline/citation/26301618/Repeated_Screening_Can_Be_Restricted_to_At_Genetic_Risk_Birth_Cohorts_ L2 - http://dx.doi.org/10.1097/MPG.0000000000000946 DB - PRIME DP - Unbound Medicine ER -