Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Catalonian Coeliac Disease Study Group

Dig Dis Sci. 1999 Nov;44(11):2344-9. doi: 10.1023/a:1026685527228.


Serologic markers, HLA-DQ2 haplotype, and clinical features suggestive of celiac disease were studied to assess their diagnostic value in a multicentric study to detect celiac disease in 675 first-degree relatives of 227 celiac probands. Serum IgA-class anti-endomysium and IgA-class anti-gliadin antibodies were positive in 5.8% and 1.9% of relatives, respectively. HLA-DQ2 haplotype was present in 64% of relatives, and the overall rate of celiac disease diagnosed by intestinal biopsy was 5.5%. The frequency of HLA-DQ2 in the celiac patients and controls was 93% and 18%, respectively. The most frequent clinical features--diarrhea, anemia, food intolerance, and growth retardation--were not present in one third of the celiac disease relatives. We conclude that the assessment of IgA-class anti-endomysium antibodies alone seems a reasonable approach for screening celiac disease in relatives and cannot be replaced by an accurate clinical anamnesis. HLA-DQ2 haplotype may identify the population with a high genetic susceptibility to celiac disease.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers / blood
  • Celiac Disease / epidemiology
  • Celiac Disease / genetics*
  • Child
  • Family Health
  • Female
  • Genetic Predisposition to Disease
  • Gliadin / immunology
  • HLA-DQ Antigens / genetics*
  • Haplotypes
  • Humans
  • Immunoglobulin A / blood
  • Male
  • Myofibrils / immunology
  • Pedigree
  • Prevalence


  • Biomarkers
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • Immunoglobulin A
  • Gliadin