Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies
| Autor: | Anguita-Ruiz, Augusto, Aguilera, Concepción M., Gil, Ángel |
|---|---|
| Přispěvatelé: | [Anguita-Ruiz,A, Aguilera,CM, Gil,Á] Department of Biochemistry and Molecular Biology II, Institute of Nutrition and Food Technology 'José Mataix', Center of Biomedical Research, University of Granada, Armilla, Granada, Spain. [Anguita-Ruiz,A, Gil,Á] Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain. [Anguita-Ruiz,A, Gil,Á] CIBEROBN (Physiopathology of Obesity and Nutrition Network CB12/03/30038), Institute of Health Carlos III (ISCIII), Madrid, Spain., This research was supported by the Bionit group (CTS461) funded by the Andalusian Plan of Research, development and innovation (PAIDI). The authors also acknowledge Instituto de Salud Carlos III for personal funding: Contratos i-PFIS: doctorados IIS-empresa en ciencias y tecnologías de la salud de la convocatoria 2017 de la Acción Estratégica en Salud 2013–2016 (IFI17/00048). |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism
Genetic::Polymorphism Single Nucleotide [Medical Subject Headings] Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings] Lactose intolerance Lactase-phlorizin hydrolase Intolerancia a la lactosa Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Malabsorption Syndromes::Lactose Intolerance [Medical Subject Headings] Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Glycoside Hydrolases::Galactosidases::beta-Galactosidase::Lactase [Medical Subject Headings] Genética Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::Epigenomics [Medical Subject Headings] Phenomena and Processes::Biological Phenomena::Biological Processes::Biological Evolution::Evolution Molecular [Medical Subject Headings] Technology and Food and Beverages::Food and Beverages::Food::Dairy Products::Milk [Medical Subject Headings] Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings] Lactase persistence Epigenómica Genetics Organisms::Eukaryota::Animals [Medical Subject Headings] Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Glycoside Hydrolases::Galactosidases::beta-Galactosidase::Lactase::Lactase-Phlorizin Hydrolase [Medical Subject Headings] Chemicals and Drugs::Carbohydrates::Polysaccharides::Oligosaccharides::Disaccharides::Lactose [Medical Subject Headings] Epigenetics Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings] Lactasa Lactasa-florizina hidrolasa Persons::Persons::Age Groups::Adult [Medical Subject Headings] Lactase non-persistence Lactase |
| Popis: | 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. Yes |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|