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 ± 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.
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 lactosehydrogen breath test with the genetic test in a sample of the Colombian Caribbean population. METHODS:Lactosehydrogen breath test and genotyping of SNP C/T(-13910) were applied to 128 healthy individuals (mean age 35 ± 1). A positive lactosehydrogen 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 lactosehydrogen 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.
Authors: Ana Cecília Guimarães Alves; Natalie Mary Sukow; Gabriel Adelman Cipolla; Marla Mendes; Thiago P Leal; Maria Luiza Petzl-Erler; Ricardo Lehtonen Rodrigues Souza; Ilíada Rainha de Souza; Cesar Sanchez; Meddly Santolalla; Douglas Loesch; Michael Dean; Moara Machado; Jee-Young Moon; Robert Kaplan; Kari E North; Scott Weiss; Mauricio L Barreto; M Fernanda Lima-Costa; Heinner Guio; Omar Cáceres; Carlos Padilla; Eduardo Tarazona-Santos; Ignacio F Mata; Elena Dieguez; Víctor Raggio; Andres Lescano; Vitor Tumas; Vanderci Borges; Henrique B Ferraz; Carlos R Rieder; Artur Schumacher-Schuh; Bruno L Santos-Lobato; Pedro Chana-Cuevas; William Fernandez; Gonzalo Arboleda; Humberto Arboleda; Carlos E Arboleda-Bustos; Timothy D O'Connor; Marcia Holsbach Beltrame; Victor Borda Journal: Front Genet Date: 2021-09-22 Impact factor: 4.599
Authors: Paulo Roberto Lins Ponte; Pedro Henrique Quintela Soares de Medeiros; Alexandre Havt; Joselany Afio Caetano; David A C Cid; Mara de Moura Gondim Prata; Alberto Melo Soares; Richard L Guerrant; Josyf Mychaleckyj; Aldo Ângelo Moreira Lima Journal: Clinics (Sao Paulo) Date: 2016-02 Impact factor: 2.365