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Genetic Heterogeneity of Hyperpepsinogenemic I and Normopepsinogenemic I Duodenal Ulcer Disease
- JEROME I. ROTTER, M.D.;
- GLORIA PETERSEN, M.A.;
- I. MICHAEL SAMLOFF, M.D.;
- RICHARD B. McCONNELL, M.D.;
- ANTHONY ELLIS, M.D.;
- M. ANNE SPENCE, Ph.D.; and
- DAVID L RIMOIN, M.D., Ph.D.
Abstract
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.
Article and Author Information
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▸From the Divisions of Medical Genetics and Gastroenterology, Harbor-UCLA Medical Center; Torrance; and the Departments of Psychiatry and Biomathematics, University of California School of Medicine, Los Angeles; Los Angeles, California; and Broadgreen Hospital and the University of Liverpool; Liverpool England.
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Grant support: National Institute of Arthritis, Metabolism, and Digestive Diseases Peptic Ulcer Center Grant AM 17238, Research Grant AM 13222, Clinical Investigator Award AM00523 to Dr. Rotter, and the Medical Research Committee of the Mersey Regional Health Authority.
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▸Requests for reprints should be addressed to Jerome I. Rotter, M.D.; Division of Medical Genetics, Harbor-UCLA Medical Center; Torrance, CA 90509.
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- Received January 8, 1979.
- Accepted May 30, 1979.
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