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Arq Gastroenterol. 2012 Jan-Mar;49(1):5-8.

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.

Author information

1
Universidad Libre Seccional Barranquilla, Colombia.

Abstract

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.

PMID:
22481679
[Indexed for MEDLINE]
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