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Open AccessReview

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

1
Department of Biochemistry and Molecular Biology II, Institute of Nutrition and Food Technology “José Mataix”, Center of Biomedical Research, University of Granada, Avda. del Conocimiento s/n. Armilla, 18016 Granada, Spain
2
Instituto de Investigación Biosanitaria ibs.GRANADA, 18014 Granada, Spain
3
CIBEROBN (Physiopathology of Obesity and Nutrition Network CB12/03/30038), Institute of Health Carlos III (ISCIII), 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
Nutrients 2020, 12(9), 2689; https://doi.org/10.3390/nu12092689
Received: 11 August 2020 / Revised: 28 August 2020 / Accepted: 1 September 2020 / Published: 3 September 2020
(This article belongs to the Special Issue Dietary Management and Lactose Intolerance)
In humans the ability to digest milk lactose is conferred by a β-galactosidase enzyme called lactase-phlorizin hydrolase (LPH). While in some humans (approximately two-thirds of humankind) the levels of this enzyme decline drastically after the weaning phase (a trait known as lactase non-persistence (LNP)), some other individuals are capable of maintaining high levels of LPH lifelong (lactase persistence (LP)), thus being able to digest milk during adulthood. Both lactase phenotypes in humans present a complex genetic basis and have been widely investigated during the last decades. The distribution of lactase phenotypes and their associated single nucleotide polymorphisms (SNPs) across human populations has also been extensively studied, though not recently reviewed. All available information has always been presented in the form of static world maps or large dimension tables, so that it would benefit from the newly available visualization tools, such as interactive world maps. Taking all this into consideration, the aims of the present review were: (1) to gather and summarize all available information on LNP and LP genetic mechanisms and evolutionary adaptation theories, and (2) to create online interactive world maps, including all LP phenotype and genotype frequency data reported to date. As a result, we have created two online interactive resources, which constitute an upgrade over previously published static world maps, and allow users a personalized data exploration, while at the same time accessing complete reports by population or ethnicity. View Full-Text
Keywords: epigenetics; genetics; lactase; lactase-phlorizin hydrolase; lactose intolerance; lactase persistence; lactase non-persistence epigenetics; genetics; lactase; lactase-phlorizin hydrolase; lactose intolerance; lactase persistence; lactase non-persistence
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Anguita-Ruiz, A.; Aguilera, C.M.; Gil, Á. Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies. Nutrients 2020, 12, 2689.

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