Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: A matter of age?

Kerber, Michaela; Oberkanins, Christian; Kriegshäuser, Gernot; Kollerits, Barbara; Dossenbach‐Glaninger, Astrid; Fuchs, Dietmar; Ledochowski, Maximilian

doi:10.1016/j.cca.2007.04.028

Cited by 36 publications

(28 citation statements)

References 30 publications

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“…The high correlation between the BH2T and the molecular test observed in the present comparative study indicates that genotyping the -13910C>T polymorphism is a good diagnostic tool for lactase status in the Portuguese population. This is in line with different studies in European descent individuals also reporting excellent matches between lactase genotypes and LP/LNP assessed by the breath hydrogen test (Kerber et al 2007;Krawczyk et al 2008;Mattar et al 2008;Pohl et al 2010;Haberkorn et al 2011) or plasma-glucose measurements (Ridefelt and Hakansson 2005).…”

Section: Resultssupporting

confidence: 84%

“…The single nucleotide polymorphism (SNP) -13910C>T (rs4988235), was shown to be strongly associated with increased lactase activity in Northern European populations: genotype CC-13910 exhibited a complete association with hypolactasia, whereas genotypes CT and TT correlates with lactase persistence (Enattah et al 2002). Genotyping -13910C>T has been subsequently tested as a diagnostic tool to determine lactose intolerance in European populations (Ridefelt and Hakansson 2005;Kerber et al 2007;Krawczyk et al 2008;Mattar et al 2008;Pohl et al 2010;Haberkorn et al 2011). …”

Section: Introductionmentioning

confidence: 99%

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Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

Manco

Pires

Lopes

et al. 2013

Annals of Human Biology

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Section: Resultssupporting

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

Manco

Pires

Lopes

et al. 2013

Annals of Human Biology

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“…-14010*C -13915*G -13910*T -13907*G … activity in 196 Finnish individuals, and subsequent studies have conWrmed a tight but not absolute association between ¡13910*T and lactase persistence as judged by lactose tolerance testing in populations of northern European ancestry (Bernardes-Silva et al 2007;Hogenauer et al 2005;Kerber et al 2007;Poulter et al 2003) and there was also a correlation, but not absolute, between genotypes and enzymatic activity (Poulter et al 2003). However the A haplotype extends far beyond the 50 kb LCT gene region, with carriers of the ¡13910*T allele having almost identical chromosomes extending for nearly 1 Mb (Bersaglieri et al 2004;Poulter et al 2003).…”

Section: Identifying the Causes Of Lactase Persistencementioning

confidence: 94%

Lactose digestion and the evolutionary genetics of lactase persistence

et al. 2008

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It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically determined trait differs in frequency worldwide and is due to cis-acting polymorphism of regulation of lactase gene expression. A single nucleotide polymorphism located 13.9 kb upstream from the lactase gene (C-13910 > T) was proposed to be the cause, and the -13910*T allele, which is widespread in Europe was found to be located on a very extended haplotype of 500 kb or more. The long region of haplotype conservation reflects a recent origin, and this, together with high frequencies, is evidence of positive selection, but also means that -13910*T might be an associated marker, rather than being causal of lactase persistence itself. Doubt about function was increased when it was shown that the original SNP did not account for lactase persistence in most African populations. However, the recent discovery that there are several other SNPs associated with lactase persistence in close proximity (within 100 bp), and that they all reside in a piece of sequence that has enhancer function in vitro, does suggest that they may each be functional, and their occurrence on different haplotype backgrounds shows that several independent mutations led to lactase persistence. Here we provide access to a database of worldwide distributions of lactase persistence and of the C-13910*T allele, as well as reviewing lactase molecular and population genetics and the role of selection in determining present day distributions of the lactase persistence phenotype.

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“…The concentration of exhaled hydrogen ions was expressed as parts per million (ppm) at baseline and at 30, 60, 90, 120, 150, and 180 minutes. 15,16 Patients remained fasting during the 3 hours of the test, and their only calorie intake was the lactose administered at test initiation. Patients had lunch once the test ended and were, therefore, able to complete all determinations in one visit.…”

Section: Hydrogen Breath Testmentioning

confidence: 99%

Comparison of an increased waist circumference with a positive hydrogen breath test as a clinical predictor of lactose intolerance

et al. 2017

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Introduction. Lactose intolerance is a common disease in pediatrics, and its wrong diagnosis will lead to morbidity. The primary objective of this study was to assess the usefulness of an increased waist circumference during the hydrogen breath test as a predictor of lactose intolerance. The secondary objective was to analyze the impact of body mass index, waist circumference measurement, and age on the abdominal distension of patients with lactose intolerance. Population and methods. A total of 138 subjects aged 3 to 15 years were included. They underwent serial measurements of the waist circumference and hydrogen levels in the breath every 30 minutes over 3 hours during the hydrogen breath test. Results. Out of the entire sample, 35 (25.4%) patients had lactose intolerance. An increase of 0.85 cm in waist circumference compared to the baseline waist circumference results in a sensitivity of 88% and a specificity of 85% to predict lactose intolerance (odds ratio: 42.14, 95% confidence interval: 13.08-135.75, p ≤ 0.001). The body mass index and waist circumference measurement did not affect abdominal distension (p= not significant); however, age modified the time of distension. Conclusions. A 0.85 cm increase in waist circumference compared to the baseline waist circumference during the hydrogen breath test is a useful parameter for the diagnosis of lactose intolerance in pediatrics. Variations in relation to body mass index and waist circumference did not affect the usefulness of an increased waist circumference, unlike age.

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Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: A matter of age?

Cited by 36 publications

References 30 publications

Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

Distribution of the − 13910C>T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption

Lactose digestion and the evolutionary genetics of lactase persistence

Comparison of an increased waist circumference with a positive hydrogen breath test as a clinical predictor of lactose intolerance

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