Entry - %126850 - DUODENAL ULCER, HYPERPEPSINOGENEMIC I - OMIM

 
 
% 126850

DUODENAL ULCER, HYPERPEPSINOGENEMIC I


Clinical Synopsis
 

GI
- Duodenal ulcer
Lab
- Hyperpepsinogenemia I
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

Human gastric mucosa contains 2 immunochemically distinct types of pepsinogens, I and II. Only pepsinogen I (PG I) is derived exclusively from the chief cells in the oxyntic glands of the gastric body and fundus. The level of PG I in the serum, as determined by radioimmunoassay, correlates with gastric secretory capacity, serves as a marker for the ulcer diathesis, and demonstrates heterogeneity, i.e., a bimodal distribution, in large groups of duodenal ulcer patients. Rotter et al. (1979) found autosomal dominant transmission of elevated serum PG I level in 2 large families with a prominent history of duodenal ulcer. An elevated PG I level identified genetically susceptible but clinically normal persons. About half of sibships with 2 or more cases of duodenal ulcer were found to segregate for high serum PG I. Rotter et al. (1982) did a variance component analysis of the distribution of serum pepsinogen I levels in normal individuals, using a maximum-likelihood method on entire pedigrees. The results indicated a broad heritability of 91%, with some 74% being attributed to a dominance component. The authors felt that pepsinogen I level in normals is principally determined by the action of major genes, as also seems to be the case for duodenal ulcer patients and their families. At least 2 other dominantly inherited syndromes have peptic ulcer as a feature, MEA I with Zollinger-Ellison syndrome (131100) and tremor, nystagmus, and duodenal ulcer (190310).

Helicobacter pylori has more recently become recognized as the predominant cause of peptic ulcer disease. The Lewis blood group antigen, Le(b) (see 111100), is the epithelial receptor for Helicobacter pylori (Boren et al., 1993). See 600263 for evidence for genetic susceptibility to Helicobacter pylori infection.


▼ See Also:

▼ REFERENCES

  1. Boren, T., Falk, P., Roth, K. A., Larson, G., Normark, S. Attachment of Helicobacter pylori to human gastric epithelium mediated by blood group antigens. Science 262: 1892-1895, 1993. [PubMed: 8018146, related citations] [Full Text]

  2. Rotter, J. I., Petersen, G., Samloff, I. M., McConnell, R. B., Ellis, A., Spence, M. A., Rimoin, D. L. Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease. Ann. Intern. Med. 91: 372-377, 1979. [PubMed: 382934, related citations] [Full Text]

  3. Rotter, J. I., Sones, J. Q., Samloff, I. M., Richardson, C. T., Gursky, J. M., Walsh, J. H., Rimoin, D. L. Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. New Eng. J. Med. 300: 63-66, 1979. [PubMed: 758579, related citations] [Full Text]

  4. Rotter, J. I., Wong, F. L., Samloff, I. M., Varis, K., Siurala, M., Ihamaki, T., Ellis, A., McConnell, R. B. Evidence for a major dominance component in the variation of serum pepsinogen I levels. Am. J. Hum. Genet. 34: 395-401, 1982. [PubMed: 7081219, related citations]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mgross : 08/12/2020
carol : 03/18/2004
jamie : 1/17/1997
jamie : 1/15/1997
terry : 1/10/1997
mimadm : 6/25/1994
carol : 7/22/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

% 126850

DUODENAL ULCER, HYPERPEPSINOGENEMIC I



TEXT

Human gastric mucosa contains 2 immunochemically distinct types of pepsinogens, I and II. Only pepsinogen I (PG I) is derived exclusively from the chief cells in the oxyntic glands of the gastric body and fundus. The level of PG I in the serum, as determined by radioimmunoassay, correlates with gastric secretory capacity, serves as a marker for the ulcer diathesis, and demonstrates heterogeneity, i.e., a bimodal distribution, in large groups of duodenal ulcer patients. Rotter et al. (1979) found autosomal dominant transmission of elevated serum PG I level in 2 large families with a prominent history of duodenal ulcer. An elevated PG I level identified genetically susceptible but clinically normal persons. About half of sibships with 2 or more cases of duodenal ulcer were found to segregate for high serum PG I. Rotter et al. (1982) did a variance component analysis of the distribution of serum pepsinogen I levels in normal individuals, using a maximum-likelihood method on entire pedigrees. The results indicated a broad heritability of 91%, with some 74% being attributed to a dominance component. The authors felt that pepsinogen I level in normals is principally determined by the action of major genes, as also seems to be the case for duodenal ulcer patients and their families. At least 2 other dominantly inherited syndromes have peptic ulcer as a feature, MEA I with Zollinger-Ellison syndrome (131100) and tremor, nystagmus, and duodenal ulcer (190310).

Helicobacter pylori has more recently become recognized as the predominant cause of peptic ulcer disease. The Lewis blood group antigen, Le(b) (see 111100), is the epithelial receptor for Helicobacter pylori (Boren et al., 1993). See 600263 for evidence for genetic susceptibility to Helicobacter pylori infection.


See Also:

Rotter et al. (1979)

REFERENCES

  1. Boren, T., Falk, P., Roth, K. A., Larson, G., Normark, S. Attachment of Helicobacter pylori to human gastric epithelium mediated by blood group antigens. Science 262: 1892-1895, 1993. [PubMed: 8018146] [Full Text: https://doi.org/10.1126/science.8018146]

  2. Rotter, J. I., Petersen, G., Samloff, I. M., McConnell, R. B., Ellis, A., Spence, M. A., Rimoin, D. L. Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease. Ann. Intern. Med. 91: 372-377, 1979. [PubMed: 382934] [Full Text: https://doi.org/10.7326/0003-4819-91-3-372]

  3. Rotter, J. I., Sones, J. Q., Samloff, I. M., Richardson, C. T., Gursky, J. M., Walsh, J. H., Rimoin, D. L. Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder. New Eng. J. Med. 300: 63-66, 1979. [PubMed: 758579] [Full Text: https://doi.org/10.1056/NEJM197901113000203]

  4. Rotter, J. I., Wong, F. L., Samloff, I. M., Varis, K., Siurala, M., Ihamaki, T., Ellis, A., McConnell, R. B. Evidence for a major dominance component in the variation of serum pepsinogen I levels. Am. J. Hum. Genet. 34: 395-401, 1982. [PubMed: 7081219]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
mgross : 08/12/2020
carol : 03/18/2004
jamie : 1/17/1997
jamie : 1/15/1997
terry : 1/10/1997
mimadm : 6/25/1994
carol : 7/22/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 20, 2024