Molecular genetics of human lactase deficiencies

@article{Jrvel2009MolecularGO,
  title={Molecular genetics of human lactase deficiencies},
  author={Irma J{\"a}rvel{\"a} and Suvi Torniainen and Kaija‐Leena Kolho},
  journal={Annals of Medicine},
  year={2009},
  volume={41},
  pages={568 - 575}
}
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population. Both lactase deficiencies are autosomal recessive traits and characterized by diminished expression of lactase activity in the intestine. Genetic variants underlying both forms have been… 
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TLDR
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TLDR
A combined evaluation of malabsorption and intolerance must be systematically performed in order to optimise the diagnostic reliability.
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TLDR
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Theodore E. Woodward Award: lactase persistence SNPs in African populations regulate promoter activity in intestinal cell culture.
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    Transactions of the American Clinical and Climatological Association
  • 2011
TLDR
The -13907*G and -13915*G SNPs result in a significant enhancement of lactase promoter activity relative to the ancestral lactase non-persistence genotype, consistent with a causative role in the mechanism specifying the lactase persistence phenotype.
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TLDR
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