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• W2104490647 abstract "Recently, the C/T-13910 polymorphism on chromosome 2q21 in North-European populations has been found completely associated with lactase activity and its genetic typing proposed as first-stage screening test for adult hypolactasia. However, the C/T-13910 variant in some sub-Saharan African groups is not a predictor of lactase persistence. In this work, we wanted to verify if in the Mediterranean island of Sardinia, located in Southern Europe, the C/T-13910 polymorphism may be useful or not for the diagnosis of adult type hypolactasia. Validation study of a genetic testing for adult type hypolactasia in Sardinians. Brotzu Hospital and Microcitemico Hospital, Cagliari, Italy. The sample consisted in 84 Sardinian individuals (63 women and 21 men; range 20–73 years) selected from a group of 832 patients. Genetic testing was compared to an improved test obtained by a combination of different breath hydrogen tests and clinical assessment. We found that all 49 individuals with lactose malabsorption, demonstrated by a combination of different breath hydrogen tests and clinical assessment, carried the C/C-13910 genotype associated with lactase non-persistence, 23 individuals with lactose normal absorption carried the C/T-13910 genotype associated with lactase persistence and only one person with the above phenotype showed a discordant C/C-13910 genotype. The genetic testing showed very high sensitivity, specificity, positive and negative predictive values of 100, 95.8, 98 and 100%, respectively. Sardinians, unlike some ethnic groups in sub-Saharan Africa, show the same genetic association of hypolactasia with the C/T-13910 variant as other North-European populations. The genetic testing for the C/T-13910 variant may contribute to improving the diagnosis of adult type hypolactasia." @default.
• W2104490647 created "2016-06-24" @default.
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• W2104490647 date "2007-02-21" @default.
• W2104490647 modified "2023-09-27" @default.
• W2104490647 title "Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia" @default.
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• W2104490647 doi "https://doi.org/10.1038/sj.ejcn.1602638" @default.
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