Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia
| Autor: | Enrico Schirru, M. Scarpa, Rita-Désirée Jores, Mauro Congia, Rossano Rossino, F. Oppia, P. Usai-Satta, M. Doloretta Macis, Francesco Cucca, S. De Virgiliis, V. Corona, F. Loriga |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Genetic Markers Male medicine.medical_specialty Genotype medicine.medical_treatment Genetic counseling Population Medicine (miscellaneous) Lactose Biology Sensitivity and Specificity White People Lactase activity Diagnosis Differential Lactose Intolerance Predictive Value of Tests Internal medicine Lactose Tolerance Test medicine Prevalence Humans Genetic Testing education Genetic testing Genetic association Aged Lactase Genetics education.field_of_study Nutrition and Dietetics medicine.diagnostic_test Middle Aged Intestines Lactase persistence Breath Tests Italy Chromosomes Human Pair 2 Female Polymorphism Restriction Fragment Length Hydrogen |
| Zdroj: | European journal of clinical nutrition. 61(10) |
| ISSN: | 0954-3007 |
| Popis: | Objective: 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. Design: Validation study of a genetic testing for adult type hypolactasia in Sardinians. Setting: Brotzu Hospital and Microcitemico Hospital, Cagliari, Italy. Subjects: The sample consisted in 84 Sardinian individuals (63 women and 21 men; range 20-73 years) selected from a group of 832 patients. Methods: Genetic testing was compared to an improved test obtained by a combination of different breath hydrogen tests and clinical assessment. Results: 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. Conclusions: 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. |
| Databáze: | OpenAIRE |
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