메뉴 건너뛰기




Volumn 439, Issue , 2015, Pages 14-17

Lactose intolerance genetic testing: Is it useful as routine screening? Results on 1426 south-central Italy patients

Author keywords

Breath test; Genetic test; Lactose intolerance

Indexed keywords

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; GENETIC TESTING; GENETIC VARIATION; GENETICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; ITALY; LACTOSE INTOLERANCE; LACTOSE TOLERANCE TEST; METHODS; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84907986185     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.09.026     Document Type: Article
Times cited : (18)

References (40)
  • 1
    • 0023068446 scopus 로고
    • Genetics of lactose digestion in humans
    • Flatz G. Genetics of lactose digestion in humans. Adv Hum Genet 1987, 16:1-77.
    • (1987) Adv Hum Genet , vol.16 , pp. 1-77
    • Flatz, G.1
  • 2
    • 0028280926 scopus 로고
    • Hypolactasia and lactase persistence. Historical review and the terminology
    • Sahi T. Hypolactasia and lactase persistence. Historical review and the terminology. Scand J Gastroenterol 1994, 29:1-6.
    • (1994) Scand J Gastroenterol , vol.29 , pp. 1-6
    • Sahi, T.1
  • 6
    • 85006193538 scopus 로고    scopus 로고
    • Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment hypolactasia: a common enzyme deficiency leading to lactose malabsorption and intolerance
    • Misselwitz B., Pohl D., Frühauf H., Fried M., Vavricka S.R., Fox M. Lactose malabsorption and intolerance: pathogenesis, diagnosis and treatment hypolactasia: a common enzyme deficiency leading to lactose malabsorption and intolerance. U Eur Gastroenterol J 2013, 1:151-159.
    • (2013) U Eur Gastroenterol J , vol.1 , pp. 151-159
    • Misselwitz, B.1    Pohl, D.2    Frühauf, H.3    Fried, M.4    Vavricka, S.R.5    Fox, M.6
  • 7
    • 84872825976 scopus 로고    scopus 로고
    • Hypolactasia: a common enzyme deficiency leading to lactose malabsorption and intolerance
    • Lember M. Hypolactasia: a common enzyme deficiency leading to lactose malabsorption and intolerance. Pol Arch Med Wewn 2012, 122(Suppl. 1):60-64.
    • (2012) Pol Arch Med Wewn , vol.122 , pp. 60-64
    • Lember, M.1
  • 8
    • 0025882118 scopus 로고
    • Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase
    • Boll W., Wagner P., Mantei N. Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase. Am J Hum Genet 1991, 48:889-902.
    • (1991) Am J Hum Genet , vol.48 , pp. 889-902
    • Boll, W.1    Wagner, P.2    Mantei, N.3
  • 10
    • 0027421312 scopus 로고
    • Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21
    • Harvey C.B., Fox M.F., Jeggo P.A., Mantei N., Povey S., Swallow D.M. Regional localization of the lactase-phlorizin hydrolase gene, LCT, to chromosome 2q21. Ann Hum Genet 1993, 57:179-185.
    • (1993) Ann Hum Genet , vol.57 , pp. 179-185
    • Harvey, C.B.1    Fox, M.F.2    Jeggo, P.A.3    Mantei, N.4    Povey, S.5    Swallow, D.M.6
  • 11
    • 7244255746 scopus 로고    scopus 로고
    • A genetic test which can be used to diagnose adult-type hypolactasia in children
    • Rasinsperä H., Savilahti E., Enattah N.S., et al. A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut 2004, 53:1571-1576.
    • (2004) Gut , vol.53 , pp. 1571-1576
    • Rasinsperä, H.1    Savilahti, E.2    Enattah, N.S.3
  • 12
    • 67349177184 scopus 로고    scopus 로고
    • Genetic test for lactase non-persistence and hydrogen breath test: is genotype better than phenotype to diagnose lactose malabsorption?
    • Di Stefano M., Terulla V., Tana P., Mazzocchi S., Romero E., Corazza G.R. Genetic test for lactase non-persistence and hydrogen breath test: is genotype better than phenotype to diagnose lactose malabsorption?. Dig Liver Dis 2009, 41:474-479.
    • (2009) Dig Liver Dis , vol.41 , pp. 474-479
    • Di Stefano, M.1    Terulla, V.2    Tana, P.3    Mazzocchi, S.4    Romero, E.5    Corazza, G.R.6
  • 13
    • 37349104918 scopus 로고    scopus 로고
    • Decline of lactase activity and C/T-13910 variant in Sardinian childhood
    • Schirru E., Corona V., Usai-Satta P., et al. Decline of lactase activity and C/T-13910 variant in Sardinian childhood. J Pediatr Gastroenterol Nutr 2007, 45:503-507.
    • (2007) J Pediatr Gastroenterol Nutr , vol.45 , pp. 503-507
    • Schirru, E.1    Corona, V.2    Usai-Satta, P.3
  • 14
    • 33646271344 scopus 로고    scopus 로고
    • Molecularly defined adult-type hypolactasia in school-aged children with a previous history of cow's milk allergy
    • Rasinpera H., Saarinen K., Pelkonen A., Jarvela I., Savilahti E., Kolho K.L. Molecularly defined adult-type hypolactasia in school-aged children with a previous history of cow's milk allergy. World J Gastroenterol 2006, 12:2264-2268.
    • (2006) World J Gastroenterol , vol.12 , pp. 2264-2268
    • Rasinpera, H.1    Saarinen, K.2    Pelkonen, A.3    Jarvela, I.4    Savilahti, E.5    Kolho, K.L.6
  • 15
    • 0347416709 scopus 로고    scopus 로고
    • Genetics of lactase persistence and lactose intolerance
    • Swallow D.M. Genetics of lactase persistence and lactose intolerance. Annu Rev Genet 2003, 37:197-219.
    • (2003) Annu Rev Genet , vol.37 , pp. 197-219
    • Swallow, D.M.1
  • 16
    • 15244357924 scopus 로고    scopus 로고
    • Systemic lactose intolerance: a new perspective on an old problem
    • Matthews S.B., Waud J.P., Roberts A.G., Campbell A.K. Systemic lactose intolerance: a new perspective on an old problem. Postgrad Med J 2005, 81:167-173.
    • (2005) Postgrad Med J , vol.81 , pp. 167-173
    • Matthews, S.B.1    Waud, J.P.2    Roberts, A.G.3    Campbell, A.K.4
  • 17
    • 19744379159 scopus 로고    scopus 로고
    • Adult-type hypolactasia and regulation of lactase expression
    • Troelsen J.T. Adult-type hypolactasia and regulation of lactase expression. Biochim Biophys Acta 2005, 1723:19-32.
    • (2005) Biochim Biophys Acta , vol.1723 , pp. 19-32
    • Troelsen, J.T.1
  • 18
    • 30444446380 scopus 로고    scopus 로고
    • Molecularly-defined lactose malabsorption, milk consumption and anthropometric differences in adult males
    • Gugatschka M., Dobnig H., Fahrleitner-Pammer A., et al. Molecularly-defined lactose malabsorption, milk consumption and anthropometric differences in adult males. QJM 2005, 98:857-863.
    • (2005) QJM , vol.98 , pp. 857-863
    • Gugatschka, M.1    Dobnig, H.2    Fahrleitner-Pammer, A.3
  • 19
    • 34547398557 scopus 로고    scopus 로고
    • Correlation of intestinal disaccharidase activities with the C/T-13910 variant and age
    • Enattah N.S., Kuokkanen M., Forsblom C., et al. Correlation of intestinal disaccharidase activities with the C/T-13910 variant and age. World J Gastroenterol 2007, 13:3508-3512.
    • (2007) World J Gastroenterol , vol.13 , pp. 3508-3512
    • Enattah, N.S.1    Kuokkanen, M.2    Forsblom, C.3
  • 21
    • 22144440502 scopus 로고    scopus 로고
    • Lactose intolerance: lactose tolerance test versus genotyping
    • Ridefelt P., Hakansson Lena D. Lactose intolerance: lactose tolerance test versus genotyping. Scand J Gastroenterol 2005, 40:822-826.
    • (2005) Scand J Gastroenterol , vol.40 , pp. 822-826
    • Ridefelt, P.1    Hakansson Lena, D.2
  • 22
    • 77952398630 scopus 로고    scopus 로고
    • Adult-type hypolactasia genotyping in Northern Italy: prevalence of C/T 13910 polymorphism and question after comparison with existing data
    • Ghidini C., Sottini A., Zanotti C., et al. Adult-type hypolactasia genotyping in Northern Italy: prevalence of C/T 13910 polymorphism and question after comparison with existing data. Minerva Gastroenterol 2010, 56:19-23.
    • (2010) Minerva Gastroenterol , vol.56 , pp. 19-23
    • Ghidini, C.1    Sottini, A.2    Zanotti, C.3
  • 24
    • 0020211765 scopus 로고
    • Modification of the breath hydrogen test: increased sensitivity for the detection of carbohydrate malabsorption
    • Kotler D.P., Holt P.R., Rosensweig N.S. Modification of the breath hydrogen test: increased sensitivity for the detection of carbohydrate malabsorption. J Lab Clin Med 1982, 100(5):798-805.
    • (1982) J Lab Clin Med , vol.100 , Issue.5 , pp. 798-805
    • Kotler, D.P.1    Holt, P.R.2    Rosensweig, N.S.3
  • 25
    • 14944363627 scopus 로고    scopus 로고
    • Genetics of lactase persistence-fresh lessons in the history of milk drinking
    • Hollox E. Genetics of lactase persistence-fresh lessons in the history of milk drinking. Eur J Hum Genet 2005, 13:267-269.
    • (2005) Eur J Hum Genet , vol.13 , pp. 267-269
    • Hollox, E.1
  • 26
    • 0028213649 scopus 로고
    • Genetics and epidemiology of adult-type hypolactasia
    • Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol 1994, (Suppl. 202):7-20.
    • (1994) Scand J Gastroenterol , pp. 7-20
    • Sahi, T.1
  • 27
    • 0024094598 scopus 로고
    • The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance
    • Schrimshaw N.S., Murray E.B. The acceptability of milk and milk products in populations with a high prevalence of lactose intolerance. Am J Clin Nutr 1988, 48:1079-1159.
    • (1988) Am J Clin Nutr , vol.48 , pp. 1079-1159
    • Schrimshaw, N.S.1    Murray, E.B.2
  • 28
    • 0021352074 scopus 로고
    • Prevalence of primary adult lactose malabsorption and awareness of milk intolerance in Italy
    • Burgio G.R., Flatz G., Barbera C., et al. Prevalence of primary adult lactose malabsorption and awareness of milk intolerance in Italy. Am J Clin Nutr 1984, 39:100-104.
    • (1984) Am J Clin Nutr , vol.39 , pp. 100-104
    • Burgio, G.R.1    Flatz, G.2    Barbera, C.3
  • 29
    • 77957265242 scopus 로고    scopus 로고
    • Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment
    • Pohl D., Savarino E., Hersberger M., et al. Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment. Br J Nutr 2010, 104:900-907.
    • (2010) Br J Nutr , vol.104 , pp. 900-907
    • Pohl, D.1    Savarino, E.2    Hersberger, M.3
  • 30
    • 41849147534 scopus 로고    scopus 로고
    • Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice
    • Mattar R., do Socorro Monteiro M., Villares C.B., dos Santos A.F., Carrilho F.J. Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice. Clin Biochem 2008, 41:628-630.
    • (2008) Clin Biochem , vol.41 , pp. 628-630
    • Mattar, R.1    do Socorro Monteiro, M.2    Villares, C.B.3    dos Santos, A.F.4    Carrilho, F.J.5
  • 31
    • 34548675197 scopus 로고    scopus 로고
    • Lactase persistence/non-persistence variants, C/T_13910 and G/A_22018, as a diagnostic tool for lactose intolerance in IBS patients
    • Bernardes-Silva C.F., Pereira A.C., da Mota G.F.A., Krieger J.E., Laudanna A.A. Lactase persistence/non-persistence variants, C/T_13910 and G/A_22018, as a diagnostic tool for lactose intolerance in IBS patients. Clin Chim Acta 2007, 386:7-11.
    • (2007) Clin Chim Acta , vol.386 , pp. 7-11
    • Bernardes-Silva, C.F.1    Pereira, A.C.2    da Mota, G.F.A.3    Krieger, J.E.4    Laudanna, A.A.5
  • 32
    • 37349015582 scopus 로고    scopus 로고
    • Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia
    • Bulhǒes A.C., Goldani H.A.S., Oliverira F.S., Matte U.S., Mazzuca R.B., Silveira T.R. Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia. Braz J Med Biol Res 2007, 40:1441-1446.
    • (2007) Braz J Med Biol Res , vol.40 , pp. 1441-1446
    • Bulhǒes, A.C.1    Goldani, H.A.S.2    Oliverira, F.S.3    Matte, U.S.4    Mazzuca, R.B.5    Silveira, T.R.6
  • 33
    • 0347364708 scopus 로고    scopus 로고
    • Breath testing to evaluate lactose intolerance in irritable bowel syndrome correlates with lactulose testing and may not reflect true lactose malabsorption
    • Pimentel M., Kong Y., Park S. Breath testing to evaluate lactose intolerance in irritable bowel syndrome correlates with lactulose testing and may not reflect true lactose malabsorption. Am J Gastroenterol 2003, 98:2700-2704.
    • (2003) Am J Gastroenterol , vol.98 , pp. 2700-2704
    • Pimentel, M.1    Kong, Y.2    Park, S.3
  • 34
    • 0031789298 scopus 로고    scopus 로고
    • Lactose intolerance and self-reported milk intolerance: relationship with lactose maldigestion
    • the Lactase Deficiency Study Group
    • Carroccio A., Montalto G., Cavera G., Notarbatolo A. Lactose intolerance and self-reported milk intolerance: relationship with lactose maldigestion. J Am Coll Nutr 1998, 17:631-636. the Lactase Deficiency Study Group.
    • (1998) J Am Coll Nutr , vol.17 , pp. 631-636
    • Carroccio, A.1    Montalto, G.2    Cavera, G.3    Notarbatolo, A.4
  • 35
    • 0028270249 scopus 로고
    • Diagnosis of hypolactasia and lactose malabsorption
    • Arola H. Diagnosis of hypolactasia and lactose malabsorption. Scand J Gastroenterol 1994, 202:26-35.
    • (1994) Scand J Gastroenterol , vol.202 , pp. 26-35
    • Arola, H.1
  • 36
    • 84855414559 scopus 로고    scopus 로고
    • European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease
    • Husby S., Koletzko S., Korponay-Szabó I.R., et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012, 54:136-160.
    • (2012) J Pediatr Gastroenterol Nutr , vol.54 , pp. 136-160
    • Husby, S.1    Koletzko, S.2    Korponay-Szabó, I.R.3
  • 38
    • 33845900450 scopus 로고    scopus 로고
    • Convergent adaptation of human lactase persistence in Africa and Europe
    • Tishkoff S.A., Reed F.A., Ranciaro A., et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 2007, 39:31-40.
    • (2007) Nat Genet , vol.39 , pp. 31-40
    • Tishkoff, S.A.1    Reed, F.A.2    Ranciaro, A.3
  • 39
    • 33846343947 scopus 로고    scopus 로고
    • A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
    • Ingram C.J., Elamin M.F., Mulcare C.A., et al. A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?. Hum Genet 2007, 120:779-788.
    • (2007) Hum Genet , vol.120 , pp. 779-788
    • Ingram, C.J.1    Elamin, M.F.2    Mulcare, C.A.3
  • 40
    • 72449120796 scopus 로고    scopus 로고
    • Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group
    • Ingram C.J., Raga T.O., Tarekegn A., et al. Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. J Mol Evol 2009, 69:579-588.
    • (2009) J Mol Evol , vol.69 , pp. 579-588
    • Ingram, C.J.1    Raga, T.O.2    Tarekegn, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.