Genetic test for lactase non-persistence and hydrogen breath test: Is genotype better than phenotype to diagnose lactose malabsorption?

M, Di Stefano; Terulla, V.; Tana, P.; Mazzocchi, S.; Romero, E.; Corazza, Gino Roberto

doi:10.1016/j.dld.2008.09.020

Cited by 28 publications

(26 citation statements)

References 34 publications

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“…The results of this study differ from those of Di Stefano et al (5) , Hogenauer et al (10) , Krawczyk et al (13) , Nagy et al (19) , and Pohl et al (22) , carried out on European populations which showed strong agreement between LHBT and the genetic studies. It is possible that the discrepancy can be due to the genetic heterogeneity of the Colombian Caribbean population that arose from the crossing of different races as opposed to the studies with Europeans with Caucasian descent only (26) .…”

Section: Discussioncontrasting

confidence: 57%

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

Mendoza-Torres

Prieto

Camacho

et al. 2012

Arq. Gastroenterol.

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-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.

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Section: Discussioncontrasting

confidence: 57%

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

Mendoza-Torres

Prieto

Camacho

et al. 2012

Arq. Gastroenterol.

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“…Second, it is possible that some individuals may have a colonic microflora that is incapable of producing hydrogen. Positive breath tests have been correlated with both the C/ T À13910 [56] and the g/A À22018 polymorphisms [57]. Third, approximately 40% of adults harbor significant numbers of methane-producing bacteria in the colon [49].…”

Section: Indirect Assessment Methods For Lactose Maldigestionmentioning

confidence: 99%

Nutrient Considerations in Lactose Intolerance

Hertzler

Savaiano

Jackson

et al. 2013

Nutrition in the Prevention and Treatment of Disease

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“…Na maior parte da população mundial, após o desmame, há um declínio gradual na atividade da lactase, um fenômeno denominado hipolactasia. O declínio nos níveis de lactase é progressivo durante a infância e a adolescência, havendo um aumento nas taxas de má-absorção de acordo com a idade 7,8 . Nos casos em que a má-absorção de lactose avança para o estágio de Intolerância à Lactose (IL), os indivíduos portadores apresentam uma série de reações adversas após ingestão de leite e de seus derivados: diarreia, flatulência, náusea, dor e distensão abdominal 9,10 .…”

Section: N T R O D U ç ã Ounclassified

Ingestão de cálcio e densidade mineral óssea em mulheres adultas intolerantes à lactose

et al. 2012

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ObjetivoComparar a ingestão de cálcio e a densidade mineral óssea entre mulheres adultas portadoras de intolerância à lactose e suas congêneres não portadoras da doença. MétodosA amostra foi composta por 60 mulheres jovens adultas (de 20 a 40 anos), separadas em dois grupos: 30 diagnosticadas com intolerância à lactose e 30 saudáveis. A ingestão de cálcio foi avaliada por três autorregistros alimentares, e a densidade mineral óssea do colo do fêmur por absortometria radiológica de dupla energia. ResultadosAs densidades minerais ósseas do colo do fêmur (M=0,86, DP=0,13g/cm² versus M=0,77, DP=0,12g/cm²) e do fêmur total (M=1,14, DP=0,14g/cm² versus M=1,06, DP=0,12g/cm²) foram menores (p<0,05) para as portadoras de intolerância à lactose do que para o grupo-controle, mas não houve diferença significativa na densidade mineral óssea para corpo inteiro (M=1,14, DP=0,15g/cm² versus M=1,08, DP=0,09g/cm², p>0,05). Além disso, a ingestão de cálcio foi menor para intolerantes à lactose do que para o grupo-controle (M=250,5, DP=111,7mg/dia -1 vs M=659,7, DP=316,1mg/dia -1 , p<0,05). ConclusãoOs resultados do presente estudo sugerem que o aparecimento de sintomas de intolerância pode influenciar a massa óssea devido a uma redução da ingestão de cálcio. Termos de indexação:Lactose. Leite. Osso. Sindrome de malabsorção.

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Genetic test for lactase non-persistence and hydrogen breath test: Is genotype better than phenotype to diagnose lactose malabsorption?

Cited by 28 publications

References 34 publications

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

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

Nutrient Considerations in Lactose Intolerance

Ingestão de cálcio e densidade mineral óssea em mulheres adultas intolerantes à lactose

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