ArticleIn vivo (Athens, Greece)
Frequency and Diagnostic Utility of the -13910C>T
Article in In vivo (Athens, Greece). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Observational
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Authors and funding
11 authors.
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No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
aimLactose intolerance (LI) is a common clinical condition associated with reduced lactase enzyme activity. The oral lactose tolerance test (OLTT), although widely used for diagnosis, has several limitations such as fasting, multiple blood collections, and gastrointestinal discomfort. As an alternative, genetic testing targeting the -13910C>T polymorphism in the MATERIALS AND
methodsA descriptive study was conducted with data from 2359 patients examined between January 2022 and May 2025 at a private laboratory. Concordance between genotyping and OLTT was analyzed in 24 patients who underwent both tests, with OLTT considered the reference standard. Sensitivity, specificity, accuracy, and Kappa coefficient were calculated. All analyses were performed using R software.
resultsThe median age of participants was 7 years (range=0.06-100 years). The observed genotype frequencies were 52.90% for the CC genotype, 38.74% for CT, and 8.35% for TT. The Kappa test demonstrated moderate agreement between the genetic test and OLTT [k=0.583 (
conclusionGenotyping for the -13910C>T polymorphism in the
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