Background: Histamine is a regulator of gastric acid secretion, which is involved in the development of duodenal ulcer (DU). Histamine is metabolized by both histamine N-methyltransferase (HNMT) and diamine oxidase, and its local action is terminated primarily by methylation which is catalyzed by HNMT.
Methods: Polymerase chain reaction-restriction fragment length polymorphism assay was used to identify the polymorphism of the point mutation C314T of HNMT gene of 498 Chinese patients with DU and 151 healthy individuals.
Results: In normal controls, the allele frequency of HNMT T314 was 3.3%, which was significantly lower than American Caucasians. The HNMT T314 allele was detected in 3.5% of the DU patients. In cases and controls, the frequency of C/C genotypes were 93.0% and 93.4%, respectively. The HNMT T/T genotype was not found in this population. No significant differences were seen in both genotype frequencies and allele frequencies between DU groups and controls. After stratified by H. pylori infection, they also could not reach significant differences in our current study.
Conclusion: The HNMT T314 allele frequency is lower in Chinese population than in American Caucasians. No association can be found in the involvement of HNMT C314T polymorphism in the susceptibility to duodenal ulcer.