Advanced search
Publication Cover
Scandinavian Journal of Clinical and Laboratory Investigation Volume 70, 2010 - Issue 5
Submit an article Journal homepage
295
Views
5
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence

Yulia Khabarova Department of Family Medicine, Northern State Medical University, Arkhangelsk, RussiaCorrespondence[email protected] [email protected]
,
Suvi Torniainen Department of Medical Genetics, University of Helsinki, Finland
,
Erkki Savilahti Hospital for Children and Adolescents, University of Helsinki, Finland
,
Mauri Isokoski Tampere School of Public Health, University of Tampere, Finland
,
Kari Mattila Medical School, University of Tampere and Centre of General Practice, Health District of Pirkanmaa, Finland
&
Irma Järvelä Department of Medical Genetics, University of Helsinki, Finland
Pages 354-357 | Received 21 Jan 2010, Accepted 26 Apr 2010, Published online: 31 May 2010

References

  • Järvelä IE. Molecular diagnosis of adult-type hypolactasia (lactase non-persistence). Scand J Clin Lab Invest 2005; 65:535–9.
  • Sahi T. Genetics and epidemiology of adult-type hypolactasia. Scand J Gastroenterol Suppl 1994;202:7–20.
  • Isokoski M, Sahi T, Villako K, Tamm A. Epidemiology and genetics of lactose malabsorption. Ann Clin Res 1981;13: 164–8.
  • Khabarova Y, Torniainen S, Nurmi H, Järvelä I, Isokoski M, Mattila K. Prevalence of lactase persistent/non-persistent genotypes and milk consumption in a young population in north-west Russia. World J Gastroenterol 2009;15:1849–53.
  • Arola H. Diagnosis of hypolactasia and lactose malabsorption. Scand J Gastroenterol Suppl 1994;202:26–35.
  • Järvelä I, Torniainen S, Kolho K-L. Molecular genetics of human lactase deficiencies. Ann Med 2009;41:568–75.
  • Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä IE Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002;30:233–7.
  • Lewinsky RH, Jensen TG, Møller J, Stensballe A, Olsen J, Troelsen JT. T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Hum Mol Genet 2005;14:3945–53.
  • Kuokkanen M, Enattah NS, Oksanen A, Savilahti E, Orpana A, Järvelä I Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 2003;52:647–52.
  • Rasinpera H, Savilahti E, Enattah NS, Kuokkanen M, Totterman N, Lindahl H, Jarvela J, Kolho K-L A genetic test which can be used to diagnose adult-type hypolactasia in children. Gut 2004;53:1571–6.
  • Enattah NS, Kuokkanen M, Forsblom C, Natah S, Oksanen A, Järvelä I, Peltonen L, Savilahti E. Correlation of intestinal disaccharidase activities with the -13910C/T variant and age. World J Gastroenterol 2007;13:3508–12.
  • http://dna-forums.com/index.php?/topic/7283-23andme
  • Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M, Ibrahim M, Omar SA, Lema G, Nyambo TB, Ghori J, Bumpstead S, Pritchard JK, Wray GA, Deloukas P. Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet 2007;39:31–40.
  • Imtiaz F, Savilahti E, Sarnesto A, Trabzuni D, Al-Kahtani K, Kagevi I, Rashed MS, Meyer BF, Järvelä I. The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population. J Med Genet 2007;44:e89.
  • Ingram CJ, Elamin MF, Mulcare CA, Weale ME, Tarekegn A, Raga TO, Bekele E, Elamin FM, Thomas MG, Bradman N, Swallow DM. A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence? Hum Genet 2007;120:779–88.
  • Tag CG, Schifflers MC, Mohnen M, Gressner AM, Weiskirchen R. A novel proximal –13914G>A base replacement in the vicinity of the common –13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test. Clin Chem 2007;53, 146–8.
  • Tag CG, Oberkanins C, Kriegshäuser G, Ingram CJ, Swallow DM, Gressner AM, Ledochowski M, Weiskirchen R. Evaluation of a novel reverse-hybridization StripAssay for typing DNA variants useful in diagnosis of adult-type hypolactasia Clin Chim Acta 2008;392:58–62.
  • Sahi T, Isokoski M, Jussila J, Launiala K, Pyorala K. Recessive inheritance of adult-type lactose malabsorption. Lancet 1973;13;823–6.
  • Sahi T. The inheritance of selective adult-type lactose malabsorption. Scand J Gastroenterol 1974;9(Suppl. 30):1–73.
  • Dahlqvist A. Assay of intestinal disaccharidases. Scand J Clin Lab Invest 1984;44:169–72.
  • Launiala K, Perheentupa J, Visakorpi J, Hallman N. Disaccharidases of intestinal mucosa in a patient with sucrose intolerance. Pediatrics 1964;34:615–20.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.