Risk of Celiac Disease in the First- and Second-Degree Relatives of Patients With Celiac Disease: A Systematic Review and Meta-Analysis

Am J Gastroenterol. 2015 Nov;110(11):1539-48. doi: 10.1038/ajg.2015.296. Epub 2015 Sep 29.


Objectives: First-degree relatives (FDRs) of patients with celiac disease (CD) are at high risk for CD and prevalence among them varies from 1.6 to 38%. The risk of having CD among FDRs if the FDR is sister, brother, mother, father, son, or daughter of index patient with CD is not known. We conducted a meta-analysis and calculated pooled prevalence of CD among FDRs, second-degree relatives (SDRs), and specific relations with index patient.

Methods: On search of literature, 2,259 articles appeared of which 54 articles were included in this meta-analysis. Diagnosis of CD was based on standard criteria.

Results: Pooled prevalence of CD was 7.5% (95% confidence interval (CI) 6.3%, 8.8%) in 10,252 FDRs and 2.3% (95% CI 1.3%, 3.8%) in 642 SDRs. Pooled prevalence of CD was highest in siblings (8.9%), followed by offsprings (7.9%) and parents (3.0%). Female FDRs had higher prevalence than male FDRs (8.4% vs. 5.2%, P=0.047). While sisters and daughters of index patient had the highest risk of having CD (1 in 7 and 1 in 8, respectively), the risk was 1 in 13 in sons, 1 in 16 in brothers, 1 in 32 in mothers, and 1 in 33 in fathers. There were also differences in the pooled prevalence of CD in FDRs according to their geographic location.

Conclusions: Pooled prevalence of CD among FDRs is 7.5% and varies considerably with their relationship with the index patient. The risk of CD in FDRs also varies according to gender and geographical location.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Asia / epidemiology
  • Celiac Disease / epidemiology*
  • Celiac Disease / genetics*
  • Europe / epidemiology
  • Fathers
  • Female
  • Humans
  • Male
  • Mothers
  • North America / epidemiology
  • Pedigree*
  • Prevalence
  • Risk Factors
  • Sex Factors
  • Siblings
  • South America / epidemiology