title: Distribution of the - 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption.
abstract: BACKGROUND
  The - 13910C>T polymorphism has been associated with lactase persistence (LP) in European populations.
  
  
  OBJECTIVE
  To assess - 13910C>T genotypes across Portugal and in adult individuals with unspecific gastrointestinal complaints associated with milk consumption.
  
  
  METHODS
  This study genotyped - 13910C>T in the general population from Northern (n = 64), Central (n = 70) and Southern (n = 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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Research Centre for Anthropology and Health CIAS, Department of Life Sciences, University of Coimbra, 3000 Coimbra, Portugal. lmanco@antrop.uc.pt
authors: Licínio
authors: L
authors: Manco
authors: Sara
authors: S
authors: Pires
authors: Ana Isabel
authors: AI
authors: Lopes
authors: Ima
authors: I
authors: Figueiredo
authors: David
authors: D
authors: Albuquerque
authors: Manuela
authors: M
authors: Alvarez
authors: Jorge
authors: J
authors: Rocha
authors: Augusto
authors: A
authors: Abade
mesh_terms: D000328:Adult; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology* / Q000235:genetics*; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D043322:Lactase / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011174:Portugal / Q000453:epidemiology; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D043322:Lactase