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

Schirru, Enrico and Corona, Valeria and Usai Satta, Paolo and Scarpa, Maria and Oppia, Francesco and Loriga, Francesco and Cucca, Francesco and De Virgiliis, Stefano and Rossino, Rossano and Macis, Maria Doloretta and Jores, Rita Désirée and Congia, Mauro (2007) Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia. European Journal of Clinical Nutrition, Vol. 61 (10), p. 1220-1225. eISSN 1476-5640. Article.

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DOI: 10.1038/sj.ejcn.1602638

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.

Item Type:Article
ID Code:4191
Status:Published
Refereed:Yes
Uncontrolled Keywords:Breath test, genotype, lactose malabsorption, lactase, RFLP, Sardinia
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Publisher:Nature Publishing Group
eISSN:1476-5640
Deposited On:16 Jul 2010 12:00

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