HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease

J Pediatr Gastroenterol Nutr. 2002 May;34(5):548-54. doi: 10.1097/00005176-200205000-00014.


Background: Patients with celiac disease are diagnosed at any age and can exhibit a wide range of clinical manifestations. The reasons for this are unclear. The aim of this study was to investigate a possible correlation between the HLA-DQA1 and HLA-DQB1 genetic markers and clinical features of celiac disease.

Methods: A total of 133 patients with celiac disease were tested for the HLA-DQA1 and HLA-DQB1 genes. Their corresponding allele and haplotype frequency distributions were estimated from the phenotypes found. The results were correlated with data from the clinical records.

Results: The DQ2 molecule was found in 93% of the patients, and DQ2 or DQ8 was found in 98%. The DQA1*0201-DQB1*0202 haplotype showed strong linkage disequilibrium. DQ2 homozygosis was significantly associated with female sex, earlier age at diagnosis, and shorter delay between onset of symptoms and diagnosis. Double-dose DQB1*02 (01-02) allele was more frequent in patients with the classic presentation of the disease.

Conclusions: The genetic markers investigated may prove useful for diagnosing and managing celiac disease. With some clinical variables, correlations not previously described were found. These correlations have a moderate strength and, therefore, must be confirmed by other studies.

MeSH terms

  • Adolescent
  • Age Factors
  • Celiac Disease / diagnosis
  • Celiac Disease / genetics*
  • Child
  • Child, Preschool
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • HLA-DQ Antigens / genetics*
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • Haplotypes
  • Homozygote
  • Humans
  • Infant
  • Male
  • Phenotype
  • Sex Factors


  • Genetic Markers
  • HLA-DQ Antigens
  • HLA-DQ alpha-Chains
  • HLA-DQ beta-Chains
  • HLA-DQA1 antigen
  • HLA-DQB1 antigen