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Journal of Gastrointestinal & Digestive System
Article . 2016 . Peer-reviewed
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Genetic Aspects of Adult-Type Hypolactasia

Authors: Maria Rosaria D’Apice; Arianna Allegretti; Domenico Dell’Edera; Annunziata Anna Epifania; Francesco Paolo Nicoletti;

Genetic Aspects of Adult-Type Hypolactasia

Abstract

Background and Objective: Lactose is a disaccharide sugar and is found in mammals milk and derivatives. Lactose intolerance is the inability to metabolize lactose, because of a lack of the required enzyme lactase in the digestive system. Genetically the physiological hypolactasia (primary LM) is associated with the LCT-13910 C/T and LCT-22018 G/A polymorphisms. The aim of this study focused on the diagnosis and treatment intolerance or malabsorption of lactose in a cohort of 983 patients for the appearance of non-specific symptoms suggestive of a lactose intolerance. Methods: The work was divided into the following phases: diagnosis of lactose intolerance or malabsorption; Check the incidence of primary lactase deficiency in the population Lucana (Italy); Evaluate the improvement of post-diagnosis symptoms and impact on quality of life (Q.O.L: Quality Of Life) as a result of enzymatic and/or food therapy in intolerant subjects. Evaluate the correlation genotype/phenotype studying variants -13910 C>T and -22018 A>G in LPH gene. Results: Of the 983 participants, 668 subjects (67.95%) had a positive homozygous mutation (associated to-13910CC hypolactasic phenotype), 314 subjects (31.94%) had a positive heterozygous mutation (associated to -13910CT lactase persistent phenotype) and only in 1 subject (0,1%) the 2 alleles were not mutated (-13910TT dominant homozygous). The present work reveals a 67.95% of participant with a positive homozygous mutation (-13910CC). Conclusions: The lactose malabsorption is a condition widespread in Italy, but much less frequently is the syndrome of intolerance. Embarking on a diet that a priori excludes milk and derivatives, in the absence of a definitive diagnosis, it can have a negative impact on the welfare of the organism The genetic test is really simple and noninvasive, confirms or excludes a malabsorption and in particular circumstances provides a predictive test to detect primary hypolactasia long before of her clinical manifestation.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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