Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption. (March 2013)

• Record Type: Journal Article
• Authors: Manco, Licínio; Pires, Sara; Lopes, Ana Isabel; Figueiredo, Ima; Albuquerque, David; Alvarez, Manuela; Rocha, Jorge; Abade, Augusto
• Is Part Of: Annals of human biology. Volume 40:Number 2(2013:Mar./Apr.)
• Page Start: 205
• Page End: 208
• Publication Date: 2013-03
• Subjects: Human biology -- Periodicals; 612
• DOI: 10.3109/03014460.2012.754943
• Languages: English
• ISSNs: 0301-4460

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Background</italic>: The − 13910C>T polymorphism has been associated with lactase persistence (LP) in European populations.</p> <p> <italic>Aim</italic>: To assess − 13910C>T genotypes across Portugal and in adult individuals with unspecific gastrointestinal complaints associated with milk consumption.</p> <p> <italic>Subjects and methods</italic>: This study genotyped − 13910C>T in the general population from Northern (<italic>n</italic> = 64), Central (<italic>n</italic> = 70) and Southern (<italic>n</italic> = 65) Portugal and in 40 subjects with gastrointestinal symptoms. Additionally, the concordance was evaluated between breath-hydrogen test and − 13910C>T genotypes in 65 samples.</p> <p> <italic>Results</italic>: An overall frequency of 0.349 for the LP − 13910*T allele was estimated in the general population, with a noticeable decrease in the South (0.269) compared with North (0.383) and Centre (0.393). Among the symptomatic group, the frequency of the − 13910*T allele (0.363) was not significantly different from the general population. A 94% concordance was found between the breath-hydrogen and the molecular tests.</p> <p> <italic>Conclusions</italic>: This study suggests that (i) the distribution of the LP polymorphism is not uniform across the country, (ii) genotyping − 13910C>T is a good diagnostic tool for lactase status in the Portuguese population and (iii) self-reported gastrointestinal complaints are not good predictors of the LP status, implying that a significant part of those complaints may not be related to hypolactasia.</p> </abstract>