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Start Over Author "V. Corona" Journal european journal of clinical nutrition
2 results on '"V. Corona"'

1. Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia

Author

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, and F. Loriga

Subjects
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
Abstract

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.

Published
2007

2. Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia.

Author

Schirru E, Corona V, Usai-Satta P, Scarpa M, Oppia F, Loriga F, Cucca F, De Virgiliis S, Rossino R, Macis MD, Jores RD, and Congia M

Subjects
Adult, Aged, Breath Tests, Chromosomes, Human, Pair 2, Diagnosis, Differential, Female, Genetic Markers, Genetic Testing methods, Genotype, Humans, Hydrogen analysis, Intestines enzymology, Italy epidemiology, Lactase metabolism, Lactose metabolism, Lactose Intolerance epidemiology, Lactose Tolerance Test, Male, Middle Aged, Predictive Value of Tests, Prevalence, Sensitivity and Specificity, White People genetics, Genetic Testing standards, Lactase deficiency, Lactose Intolerance diagnosis, Lactose Intolerance genetics, Polymorphism, Restriction Fragment Length
Abstract

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.

Published
2007
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