DUODENAL-ULCER DISEASE ASSOCIATED WITH ELEVATED SERUM PEPSINOGEN-I - INHERITED AUTOSOMAL DOMINANT DISORDER

To delineate genetic factors involved in the pathogenesis of duodenal ulcer, serum pepsinogen I levels were determined by radioimmunoassay in two large kindreds with multiple members affected with duodenal ulcer. An elevated serum immunoreactive pepsinogen I concentration (>100 ng per milliliter) segregated as an autosomal dominant trait in these families. Furthermore, 10 of 11 patients with clinical ulcer disease in these families had hyperpepsinogenemia. An elevated serum pepsinogen I concentration appears to be a subclinical marker of the ulcer diathesis in families with this autosomal dominant form of peptic-ulcer disease. (N Engl J Med 300:63–66, 1979) EVIDENCE for a genetic role in the pathogenesis of duodenal ulcer includes an increased frequency of the disease in first-degree relatives of patients,1 a greater concordance for duodenal ulcer in monozygotic than in dizygotic twins,2 and an increased frequency of blood Group O and blood group nonsecretor status in patients with duodenal ulcer.1 However, the mode of inheritance of the disease remains uncertain, because its familial aggregation does not conform to any simple Mendelian pattern of inheritance. A major difficulty in genetic studies of duodenal ulcer has been the lack of subclinical markers of the ulcer diathesis. Blood Group O. © 1979, Massachusetts Medical Society. All rights reserved.