Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study

J Pediatr. 2013 Jul;163(1):237-42. doi: 10.1016/j.jpeds.2012.12.087. Epub 2013 Feb 8.


Objective: To provide risk estimates for celiac disease (CD) in Down syndrome (DS) compared with the general population.

Study design: In this nationwide Swedish case-control study, we examined the risk of CD in individuals with DS born between 1973 and 2008. Study participants consisted of 2 populations: 11,749 patients with biopsy-verified CD (villous atrophy [VA], equivalent to Marsh grade III) who were identified through histopathology reports from the 28 pathology departments in Sweden and 53,887 population-based controls matched for sex, age, calendar year of birth, and county of residence. We used prospectively recorded data from Swedish health registers to identify individuals with DS. ORs were calculated using conditional logistic regression.

Results: Of the 11,749 individuals with CD, 165 had a diagnosis of DS (1.4%) compared with 55/53,887 controls (0.1%). This corresponded to an OR of 6.15 (95% CI = 5.09-7.43) for subsequent CD in individuals with DS compared with the general population. The association between DS and CD was not affected by maternal age at delivery, infant sex, or presence of type 1 diabetes mellitus in the child.

Conclusions: We found a sixfold increased risk of CD in individuals with DS. This study adds precision to the previously reported association between DS and CD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Celiac Disease / epidemiology*
  • Celiac Disease / etiology*
  • Child
  • Child, Preschool
  • Down Syndrome / complications*
  • Female
  • Humans
  • Infant
  • Male
  • Registries
  • Risk Factors
  • Sweden / epidemiology