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

• Published in: European journal of clinical nutrition Vol. 63; no. 7; pp. 909 - 912
• Main Authors: Nagy, D, Bogácsi-Szabó, E, Várkonyi, A, Csányi, B, Czibula, A, Bede, O, Tari, B, Raskó, I
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.07.2009; Nature Publishing Group
• Subjects: Adolescent; adolescents; Adult; adults; Age; beta-galactosidase; Biological and medical sciences; Biopsy; Breath Tests; Celiac Disease - diagnosis; Celiac Disease - pathology; Child; Child, Preschool; children; Clinical Nutrition; Demographic aspects; Diagnosis; Diagnosis, Differential; diagnostic techniques; Diagnostic tests; diet-related diseases; disease prevalence; Epidemiology; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; Gastrointestinal Diseases; Gene polymorphism; genes; Genetic screening; Genotype; Genotype & phenotype; Genotypes; Genotyping; human diseases; Humans; Hungary - epidemiology; Hydrogen - analysis; hydrogen breath tests; Internal Medicine; Intestine, Small - surgery; Lactase; Lactase - deficiency; Lactase - genetics; lactase non- persistant genotype; lactase-persistant genotype; Lactose; Lactose intolerance; Lactose Intolerance - diagnosis; Lactose Intolerance - epidemiology; Lactose Intolerance - genetics; Male; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Nucleotides; Nutrition research; Phenotype; Polymorphism; Polymorphism, Single Nucleotide; Population genetics; Predictive Value of Tests; Prevalence; Prevalence studies (Epidemiology); Public Health; short-communication; signs and symptoms (animals and humans); Single-nucleotide polymorphism; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Young Adult; young adults; Hungary; breath test; single nucleotide polymorphism C/T; lactose intolerance; H; specificity; positive and negative predictive value; sensitivity; Human; Prevalence; Hydrogen; Metabolic diseases; Epidemiology; Lactose; Sensitivity; Specificity; Breath test; Predictive value; Adult; Genetics; Diagnosis; Single nucleotide polymorphism
• ISSN: 0954-3007; 1476-5640
• DOI: 10.1038/ejcn.2008.74

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.