title: Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians.
abstract: 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.
authors.affiliation: Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB 521, Szeged H-6701, Hungary. nagydor@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Nagy
authors.forename: E
authors.initials: E
authors.lastname: Bogácsi-Szabó
authors.forename: A
authors.initials: A
authors.lastname: Várkonyi
authors.forename: B
authors.initials: B
authors.lastname: Csányi
authors.forename: A
authors.initials: A
authors.lastname: Czibula
authors.forename: O
authors.initials: O
authors.lastname: Bede
authors.forename: B
authors.initials: B
authors.lastname: Tari
authors.forename: I
authors.initials: I
authors.lastname: Raskó
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D001944:Breath Tests; D002446:Celiac Disease / Q000175:diagnosis / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005767:Gastrointestinal Diseases; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D006859:Hydrogen / Q000032:analysis; D007421:Intestine, Small / Q000601:surgery; D043322:Lactase / Q000172:deficiency* / Q000235:genetics*; D007787:Lactose Intolerance / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D015995:Prevalence; D055815:Young Adult
chemical_list: D006859:Hydrogen; D043322:Lactase