THE GENETIC AND EPIGENETIC BASIS OF LACTOSE INTOLERANCE IN THE ADULTHOOD
Abstract
The LCT gene encodes the synthesis of lactase; gene expression and lactase activity are high in newborns, but after
ablation they become depressed; thus, the adult has lactose intolerance due to little or no lactase activity. The MCM6 gene
contains an enhancer region with profound effects on LCT expression. A SNP (C>T) located upstream from the start site of the transcription of the
LCT gene at position -13910 is the main responsible of lactase persistence in some people because the T-allele is not subject of methylation, which
is the main mechanism of silencing of the LCT gene. Knowledge about whether lactose intolerance has this origin is important to guide alimentary
interventions.
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Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I. Identification of a variant associated with adult-type hypolactasia. Nat Genet.2002;30:233-7.
Labrie V, Buske OJ, Oh E, Jeremian R, Ptak C, Gasiūnas G, et al. Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging. NatStruct Mol Biol. 2016 Jun;23(6):566-73.
Swallow DM, Troelsen JT. Escape from epigenetic silencing of lactaseexpression is triggered by a single-nucleotide change. Nat Struct Mol Biol. 2016;23:505-7.
Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, et al. Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele. J Pediatr Gastroenterol Nutr. 2015;60(:182-91
Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, et al. Convergent adaptation of humanlactase persistence in Africa and Europe. Nat Genet. 2007;39:31-40.
Torniainen S, Parker MI, Holmberg V, Lahtela E, Dandara C, Jarvela I. Screening of variants for lactase persistence/non-persistence in populations fromSouth Africa and Ghana. BMC Genet. 2009 Jul 5;10:31.
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