Genetic test for lactase non-persistence and hydrogen breath test: Is genotype better than phenotype to diagnose lactose malabsorption?

Digestive and Liver Disease

Volumn 41, Issue 7, 2009, Pages 474-479

  Di Stefano, M ^a   Terulla, V ^a   Tana, P ^a   Mazzocchi, S ^a   Romero, E ^a   Corazza, G R ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Genetic test; Hydrogen breath test; Lactase phlorizin hydrolase; Lactose intolerance; Lactose malabsorption

Indexed keywords

LACTASE; LACTOSE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; FEMALE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROGEN BREATH TEST; LACTASE DEFICIENCY; LACTOSE INTOLERANCE; MALE; PHENOTYPE; PRIORITY JOURNAL; SYMPTOM;

ADOLESCENT; ADULT; AGED; BREATH TESTS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LACTASE; LACTOSE INTOLERANCE; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; YOUNG ADULT;

EID: 67349177184     PISSN: 15908658     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dld.2008.09.020     Document Type: Article

References (37)

1. Flatz G. Genetics of lactose digestion in humans. Adv Human Genet 16 (1987) 1-77
2. Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol 29 Suppl. 202 (1994) 7-20
3. Bayless T.M., Rothfeld B., Massa C., Wise L., Paige D., and Bedline M.S. Lactose and milk intolerance: clinical implications. N Engl J Med 292 (1975) 1156-1159
4. Di Stefano M., Veneto G., Malservisi S., Cecchetti L., Minguzzi L., Strocchi A., et al. Lactose malabsorption and intolerance and peak bone mass. Gastroenterology 122 (2002) 1793-1799
5. Bond J.H., and Levitt M.D. Quantitative measurement of lactose absorption. Gastroenterology 70 (1976) 1058-1062
6. 2 criteria. Gastroenterology 105 (1993) 1404-1410
7. Di Stefano M., Missanelli A., Miceli E., Strocchi A., and Corazza G.R. Hydrogen breath test in the diagnosis of lactose malabsorption: accuracy of new versus conventional criteria. J Lab Clin Med 144 (2004) 313-318
8. Enattah N.S., Sahi T., Savilahti E., Terwilliger J.D., Peltonen L., and Jarvela I. Identification of a variant associated with adult-type hypolactasia. Nat Genet 30 (2002) 233-237
9. Rasinpera H., Savilahti E., Enattah N.S., Kuokkanen M., Tötterman N., Lindahl H., et al. A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut 53 (2004) 1571-1576
10. Hogenauer C., Hammer H.F., Mellitzer K., Renner W., Krejs G.J., and Toplak H. Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence. Eur J Gastroenterol Hepatol 17 (2005) 371-376
11. Szilagyi A., Malolepszy P., Hamard E., Xue X., Hilzenrat N., Ponniah M., et al. Comparison of a real-time polymerase chain reaction assay for lactase genetic polymorphism with standard indirect tests for lactose maldigestion. Clin Gastroenterol Hepatol 5 (2007) 192-196
12. Welsh J.D., Poley J.R., Bhatia M., and Stevenson D.E. Intestinal disaccharidase activities in relation to age, race, and mucosal damage. Gastroenterology 75 (1978) 847-855
13. Wallis J.L., Lipski P.S., Mathers J.C., James O.F.W., and Hirst B.H. Duodenal brush-border mucosal glucose transport and enzyme activities in aging man and effect of bacterial contamination of the small intestine. Dig Dis Sci 38 (1993) 403-409
14. Triadou N., Bataille J., and Schmitz J. Longitudinal study of the human intestinal brush border membrane proteins. Distribution of the main disaccharidases and peptidases. Gastroenterology 85 (1983) 1326-1332
15. Metz G., Jenkins D.J.A., Peters J.J., Newman A., and Blendis L.M. Breath hydrogen as a diagnostic methods for hypolactasia. Lancet (1975) I1155-1157
16. Corazza G.R., Strocchi A., and Gasbarrini G. Fasting breath hydrogen in celiac disease. Gastroenterology 93 (1987) 53-58
17. Thompson D.G., O'Brien J.D., and Hardie J.M. lnfluence of the oropharyngeal microflora on the measurements of exhaled breath hydrogen. Gastroenterology 191 (1986) 853-860
18. Rosenthal A., and Solomons N.W. Time-course of cigarette smoke contamination of clinical hydrogen breath-analysis tests. Clin Chem 29 (1983) 1980-1981
19. 2) response to carbohydrate malabsorption after exercise. J Lab Clin Med 102 (1983) 147-150
20. 2) production. Dig Dis Sci 33 (1988) 308-313
21. 2 breath test. Dig Dis Sci 38 (1993) 2010-2016
22. Strocchi A., and Levitt M.D. Factors affecting hydrogen production and consumption by human fecal flora. The critical roles of hydrogen tension and methanogenesis. J Clin Invest 89 (1992) 1304-1311
23. Suarez F.L., Savaiano D.A., and Levitt M.D. A comparison of symptoms after the consumption of milk or lactose-hydrolyzed milk by people with self-reported severe lactose intolerance. N Engl J Med 333 (1995) 1-4
24. Newcomer A.D., McGill D.B., Thomas P.J., and Hofmann A.F. Prospective comparison of indirect methods for detecting lactase deficiency. N Engl J Med 293 (1975) 1232-1236
25. Ravich W.J., Bayless T.M., and Thomas M.E. Fructose: limited intestinal absorption in man. Gastroenterology 84 (1983) 26-29
26. Hertzler S.R., and Savaiano D.A. Colonic adaptation to daily lactose feeding in lactose maldigesters reduces lactose intolerance. Am J Clin Nutr 64 (1996) 232-236
27. Krasilnikoff P.A., Gudmand-Hoyer E., and Moltke H.H. Diagnostic value of disaccharidase tolerance tests in children. Acta Paed Scand 64 (1975) 693-698
28. Doell R.G., and Kretchmer N. Studies of small intestine during development. I. Distribution and activity of beta-galactosidase. Biochim Biophys Acta 62 (1962) 353-362
29. Rubino A., Zimbalatti F., and Auricchio S. Intestinal disaccharidase activities in adult and suckling rats. Biochim Biophys Acta 92 (1964) 305-311
30. Newcomer A.D., and McGill D.B. Distribution of disaccharidase activity in the small bowel of normal and lactase-deficient subjects. Gastroenterology 51 (1966) 481-488
31. Holt P.R., Tierney A.R., and Kotler D.P. Delayed enzyme expression: a defect of aging rat gut. Gastroenterology 89 (1985) 1026-1034
32. Holt P.R., Heller T.D., and Richardson A.G. Food restriction retards age-related biochemical changes in rat small intestine. J Gerontol 46 (1991) B89-94
33. Lee M.F., Russell R.M., Montgomery R.K., and Krasinski S.D. Total intestinal lactase and sucrase activities are reduced in aged rats. J Nutr 127 (1997) 1382-1387
34. Goulding A., Taylor R.W., Keil D., Gold E., Lewis-Barned N.J., and Williams S.M. Lactose malabsorption and rate of bone loss in older women. Age Ageing 28 (1999) 175-180
35. Di Stefano M., Veneto G., Malservisi S., Strocchi A., and Corazza G.R. Lactose malabsorption and intolerance in the elderly. Scand J Gastroenterol 36 (2001) 1274-1278
36. Corazza G.R., Ginaldi L., Quaglione G., Ponzielli F., Vecchio L., Biagi F., et al. Proliferating cell nuclear antigen expression is increased in small bowel epithelium in the elderly. Mech Ageing Dev 104 (1998) 1-9
37. Schirru E., Corona V., Usai-Satta P., Scarpa M., Cucca F., De Virgiliis S., et al. Decline of lactase activity and C/T-13910 variant in Sardinian Childhood. JPGN 45 (2007) 503-506