Dr. Bachvarov et al., ALTERED FREQUENCY OF A PROMOTER POLYMORPHIC ALLELE OF THE KININ B-1 RECEPTOR GENE IN INFLAMMATORY BOWEL-DISEASE, Gastroenterology (New York, N.Y. 1943), 115(5), 1998, pp. 1045-1048
Background & Aims: Evidence of kinin-mediated inflammation in the gast
rointestinal tract is accumulating. The genes and some polymorphic sit
es have been characterized for both kinin B-1 and B-2 receptors. These
candidate genes were studied for their possible association with infl
ammatory bowel disease (IBD). Methods: In a retrospective study, the p
revalence of allele pairs for four polymorphic sites of the two kinin
receptor genes was determined in 53 patients with IBD and in 110 healt
hy volunteers similar in age, body weight, and gender proportions, usi
ng polymerase chain reaction and other techniques. Results: Only the B
-1 receptor promoter polymorphism (G(-699)-->C) exhibited a significan
tly different allele frequency between the two groups (prevalence of t
he C allele of 5.7% in patients with IBD compared with 33.6% in contro
ls; P = 0.0002) or between the controls and either etiologic subgroup
(ulcerative colitis and Crohn's disease). Allelic polymorphisms affect
ing exon 3 of the B-1 receptor gene (A(1098)-->G) Or exon 2 (C-181-->T
) or 1 (a 9-base pair deletion) of the B-2 receptor gene were found to
be neutral. Conclusions: The gene corresponding to the B1 receptor fo
r kinins may be a nonetiologic marker of symptomatic IBD, as suggested
by the altered prevalence of a polymorphism presumably affecting its
regulation.