Pancolitis and genetic markers in the Spanish population.

Background: although the etiology of ulcerative colitis disease remains an enigma, the importance of the major histocompatibility complex genes has been described, as in many other autoimmune diseases.
Aim: we investigated the contribution of HLA-DRB1, DQA1 and DQB1 genes (HLA region) in patients with pancolitis.
Methods: we studied a total of 89 patients diagnosed as having ulcerative colitis (34 pancolitis and 55 left colitis) and 275 healthy control subjects. Complete information on sex, age, family history, age of onset, localization, complications, surgery and treatment was obtained from all patients. DNA was extracted from peripheral blood leukocytes and all individuals were HLA-DRB1 genotyped.
Results and Conclusions: there was an association between pancolitis and the presence of DR4-Val86 (p = 0.009; OR = 3.3) and DRB1*0103 (p = 0.02; OR = 5.1) alleles. In patients with left colitis an association with DRB1*1501 (p = 0.03; OR = 1.9) and DRB1*0103 alleles (p = 0.03; OR = 3.8) was observed. We conclude that a strong association between DR4-Val86 and pancolitis exists.