%0 Journal Article
%T Diagnosis of adult-type hypolactasia/lactase persistence: genotyping of single nucleotide polymorphism (SNP C/T-13910) is not consistent with breath test in Colombian Caribbean population
%A Mendoza Torres
%A Evelyn
%A Varela Prieto
%A Lourdes Luz
%A Villarreal Camacho
%A Jos¨¦ Luis
%A Villanueva Torregroza
%A Daniel Antonio
%J Arquivos de Gastroenterologia
%D 2012
%I Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE
%R 10.1590/S0004-28032012000100002
%X context: genotyping of single nucleotide polymorphism (snp c/t-13910) located upstream of the lactase gene is used to determine adult-type hypolactasia/lactase persistence in north-european caucasian subjects. the applicability of this polymorphism has been studied by comparing it with the standard diagnostic methods in different populations. objective: to compare the lactose hydrogen breath test with the genetic test in a sample of the colombian caribbean population. methods: lactose hydrogen breath test and genotyping of snp c/t-13910 were applied to 128 healthy individuals (mean age 35 ˇŔ 1). a positive lactose hydrogen breath test was indicative of hypolactasia. genotyping was done using polymerase chain reaction/restriction fragment length polymorphism. the kappa index was used to establish agreement between the two methods. results: seventy-six subjects (59%) were lactose-maldigesters (hypolactasia) and 52 subjects (41%) were lactose-digesters (lactase persistence). the frequencies of the cc, ct and tt genotypes were 80%, 20% and 0%, respectively. genotyping had 97% sensitivity and 46% specificity. the kappa index = 0.473 indicates moderate agreement between the genotyping of snp c/t-13910 and the lactose hydrogen breath test. conclusion: the moderate agreement indicates that the genotyping of the snp c/t-13910 is not applicable to determine adult-type hypolactasia/lactase persistence in the population participating in this study.
%K lactose intolerance
%K lactase
%K polymorphism
%K single nucleotide
%K breath tests
%K colombia
%K caribbean region.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-28032012000100002&lng=en&nrm=iso&tlng=en