Decline of lactase activity and c/t-13910 variant in Sardinian childhood

Schirru, E; Corona, V; Usai Satta, P; Scarpa, M; Cucca, F; De Virgiliis, S; Rossino, Rossano; Frau, F; Macis, Md; Jores, Rd; Congia, M.

Our study aims to determine the age of onset of adult-type hypolactasia in Sardinians, and to establish the age at which genotyping of the C/T-13910 variant can be used reliably in the diagnosis of lactose malabsorption. PATIENTS AND METHODS: A lactose breath hydrogen test was given to 383 randomly selected patients, from 3 to 19 years old. RESULTS: The C/C-13910 genotype was found in 90% of patients; the frequency of the positive lactose breath hydrogen test increased with age and reached a prevalence of 85% at 9 years. CONCLUSIONS: In Sardinians, adult-type hypolactasia becomes phenotypically evident in all individuals older than 9 years, suggesting that this should be considered the minimum age at which the genetic test for lactase nonpersistence should be applied.

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Titolo:	Decline of lactase activity and c/t-13910 variant in Sardinian childhood
Autori:	SCHIRRU, ENRICO CORONA V USAI SATTA P SCARPA M CUCCA F DE VIRGILIIS S ROSSINO, ROSSANO FRAU F MACIS MD JORES RD CONGIA M. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2007
Rivista:	JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Abstract:	Our study aims to determine the age of onset of adult-type hypolactasia in Sardinians, and to establish the age at which genotyping of the C/T-13910 variant can be used reliably in the diagnosis of lactose malabsorption. PATIENTS AND METHODS: A lactose breath hydrogen test was given to 383 randomly selected patients, from 3 to 19 years old. RESULTS: The C/C-13910 genotype was found in 90% of patients; the frequency of the positive lactose breath hydrogen test increased with age and reached a prevalence of 85% at 9 years. CONCLUSIONS: In Sardinians, adult-type hypolactasia becomes phenotypically evident in all individuals older than 9 years, suggesting that this should be considered the minimum age at which the genetic test for lactase nonpersistence should be applied.
Handle:	http://hdl.handle.net/11584/16198
Tipologia:	1.1 Articolo in rivista

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