Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease

J. I. Rotter, G. Petersen, I. M. Samloff, R. B. McConnell, A. Ellis, M. A. Spence, D. L. Rimoin

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


In a search for a genetic marker of duodenal ulcer, we measured serum pepsinogen I levels in 168 ulcer patients and 151 of their clinically normal siblings. The ulcer patients tended to have either hyperpepsinogenemia I (pepsinogen I, ≥ 100 ng/mL) or a normal level on a familial basis. Further evidence supporting this separation was the finding that the mean serum pepsinogen I level in the clinically normal siblings of the hyperpepsinogenemic patients was 91.2 ng/mL, significantly higher than the mean level (63.1 ng/mL) in the normal siblings of the normopepsinogenemic I patients. In the hyperpepsinogenemic I families the results of segregation analysis of an elevated pepsinogen I were consistent with autosomal-dominant inheritance of this trait. The genetic basis of normopepsinogenemic I duodenal ulcer was also shown by the familial aggregation of this disorder. These data provide direct evidence for genetic heterogeneity of duodenal ulcer disease.

Original languageEnglish (US)
Pages (from-to)372-377
Number of pages6
JournalAnnals of internal medicine
Issue number3
StatePublished - 1979

ASJC Scopus subject areas

  • Internal Medicine


Dive into the research topics of 'Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease'. Together they form a unique fingerprint.

Cite this