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.
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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. 1979;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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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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