RT Journal Article
T1 Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies
A1 Anguita-Ruiz, Augusto
A1 Aguilera, Concepción M.
A1 Gil, Ángel
K1 Epigenetics
K1 Genetics
K1 Lactase
K1 Lactase-phlorizin hydrolase
K1 Lactose intolerance
K1 Lactase persistence
K1 Lactase non-persistence
K1 Epigenómica
K1 Genética
K1 Lactasa
K1 Lactasa-florizina hidrolasa
K1 Intolerancia a la lactosa
AB 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.
PB MDPI
YR 2020
FD 2020-09-03
LK http://hdl.handle.net/10668/3736
UL http://hdl.handle.net/10668/3736
LA en
NO Anguita-Ruiz A, Aguilera CM, Gil Á. Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies. Nutrients. 2020 Sep 3;12(9):2689
DS RISalud
RD Apr 18, 2025