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.; DAVID L RIMOIN, M.D., Ph.D.
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.
ROTTER JI, PETERSEN G, SAMLOFF IM, McCONNELL RB, ELLIS A, SPENCE MA, et al. Genetic Heterogeneity of Hyperpepsinogenemic I and Normopepsinogenemic I Duodenal Ulcer Disease. Ann Intern Med. ;91:372–377. doi: 10.7326/0003-4819-91-3-372
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Published: Ann Intern Med. 1979;91(3):372-377.
Gastroenterology/Hepatology, Peptic Disease, Peptic Ulcer.
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