Study of HLA-DQB1 alleles in Spanish celiac patients and their first-degree relatives

Abstract

Celiac disease (CD) susceptibility is strongly associated with the HLA alleles DQA1 0501 and DQB1 02*. To investigate this, we performed a study which included thirty celiac children and sixty-five first-degree relatives of them. DQB1 genotyping was performed by PCR (polymerase chain reaction) amplification. The allele frequencies in each group were compared by Chi-square test (χ²) using Yates correction and Fisher test. Most patients (70%) were positive for DQB1 0201. HLA-DQB1 0201 was found in 61% of the first-degree relatives. 58% of the patients showed heterozygosity for DQB1 0201, whereas 12% of the celiac patients were homozygous for DQB1 0201. These findings support the role of DQB1 0201 alleles as a risk factor for celiac disease. No significant differences could be detected in the HLA-DQB1 allele distribution between celiac patients and their first-degree relatives.