Background: Celiac disease (CD) is a permanent gluten intolerance disorder
characterized by malabsorption, intestinal mucosa villus atrophy, and crypt
hyperplasia. Clinical and histologic features improve in persons consuming
a gluten free diet. The pathogenesis of CD involves environmental, genetic
, and immunologic factors.
Methods: The frequencies of human leukocyte antigen (HLA) class II alleles
were evaluated in white Brazilian patients who had CD and compared with tho
se observed in healthy individuals from the same geographical area (Ribeira
o Preto, Sao Paulo) and of similar ethnic background. Twenty-five patients
with CD, 11 females and 14 males, and 91 control individuals were studied.
The HLA class II alleles were typed using amplified DNA hybridized with seq
uence-specific primers. Statistical analysis was performed using the two-ta
iled Fisher exact test. The relative risk (RR), etiologic fraction (EF), an
d preventive fraction (PF) were also estimated. The EF represents the attri
butable risk for the development of CD at the population level, whereas PF
represents the protective risk.
Results: The frequency of the HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 all
eles was significantly increased in patients. The RR conferred by these all
eles was 5.35, 7.15, and 10.6, respectively, and the EF was 48.7%, 44.7%, a
nd 76%, respectively. The frequency of HLADQB1*06 alleles was significantly
decreased in CD patients, conferring an RR of 0.08 and a PF of 48%.
Conclusions: The results show that HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*0
2 alleles conferred susceptibility to CD in Brazilian patients. In contrast
, HLADQB1*06 alleles conferred protection against development of the diseas
e.