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J Gastrointestin Liver Dis. 2008 Jun;17(2):135-9.

Concordance of genetic and breath tests for lactose intolerance in a tertiary referral centre.

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  • 1Medical University of Lublin, Poland.



Lactase non-persistence causes gastrointestinal symptoms after milk ingestion. Hydrogen breath test (BTH) and genotyping of a single nucleotide polymorphism (SNP) C >T 13,910 base pairs upstream of the lactase gene represent potential methods for diagnosis of this autosomal-recessive trait. The aim of the study was to compare the results of both tests in detecting lactose non-persistence in a tertiary referral centre.


A group of 58 patients admitted to a German university hospital for symptoms suggesting lactose intolerance.


BTH after lactose ingestion (50 g) and SNP -13,910C>T genotyping using single nucleotide primer extension (SNaPshot) technology (CC genotype--lactase non-persistence; TC/TT genotypes--lactase persistence).


Overall, 17 (29%) patients had a positive and 41 (71%) had a negative BTH result; 15 (26%) patients were CC-positive and 43 (74%) were CC-negative [28 (48%) TC; 15 (26%) TT]. The genotype frequencies did not deviate from the Hardy-Weinberg equilibrium. In the CC-positive group, concordance between both tests was 100%. In contrast, in the CC-negative group concordance was 95%, and positive BTH results could be attributed to other gastrointestinal pathologies in two patients. BTH had 100% negative predictive value, 88% positive predictive value, 100% sensitivity and 95% specificity, as compared to genetic testing.


In carriers of the CC-genotype, BTH and genotyping correlate perfectly, and the genetic test provides an unambiguous result. In BTH-positive individuals with a negative genetic test there is good reason to suspect secondary causes of lactase deficiency.

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