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Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians


The prevalence of adult-type hypolactasia varies ethnically and geographically among populations. A C/T–13910 single nucleotide polymorphism (SNP), upstream of the lactase gene, is known to be associated with lactase non-persistence. The aim of this study was to determine the prevalence of lactase-persistent and non-persistent genotypes in the Hungarian population, the age at onset and the applicability of the lactose H2 breath test in comparison with genetic screening. The prevalence of the C/C−13910 genotype among adults was 37%. Hypolactasia starts to appear at around 5 years of age. Over the age of 12 years, almost all of those with a C/C−13910 genotype have lactase non-persistence. The C/C−13910 genotype was closely associated with a positive lactose H2 breath test in symptomatic children, whereas the lactase-persistent genotypes correlated better with a negative H2 test in a control group. In conclusion, supplementary non-invasive breath and genotyping tests furnish a perfect clinical diagnosis.

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We thank Mrs Mária Radó and Mrs Gabriella Lehõcz for their skilled technical assistance, and Sándor Kocsubé and László Nagy of the Department of Microbiology, Faculty of Sciences, University of Szeged for their useful advice. This work was supported by grant OM-00050/2004 of the Hungarian National Research and Development Programs. The sampling was approved by the Ethical Committee of the Medical Faculty, and the subjects or their parents gave their informed consent.

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Correspondence to D Nagy.

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Contributors: DN and EBS contributed equally to this study.

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Nagy, D., Bogácsi-Szabó, E., Várkonyi, Á. et al. Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians. Eur J Clin Nutr 63, 909–912 (2009).

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  • lactose intolerance
  • single nucleotide polymorphism C/T−13910
  • H2 breath test
  • specificity
  • sensitivity
  • positive and negative predictive value

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