Familial Aggregation of Duodenal Ulcer and an Autosomal Dominant Inheritance of Hyperpepsinogenemia I

To clarify genetic factors involved in the familial aggregation of duodenal ulcer, serum pepsinogen I levels were determined by radioimmunoassay in patients with duodenal ulcer and their affected and unaffected relatives.
There existed relationship between an elevated pepsinogen I level and susceptability of duodenal ulcer, and the familial aggregation of duodenal ulcer. The segregation analysis revealed that hyperpepsinogenemia I was inherited as an autosomal dominant inheritance, and in some families this trait was responsible for familial aggregation of duodenal ulcer. But in other families normopepsinogenemic I duodenal ulcer has segregated and association to pathophysiological factors of this trait was obscure. These data provide evidence that genetic factors play a role in pathogenesis of duodenal ulcer, and that hyperpepsinogenemia I is one of genetic markers of this disease.