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Endocrine/metabolic disease


Amylase a1A (AMY1A); AMY1B; AMY1C

Genetic studies identified an association between copy number variants of the salivary amylase genes and obesity that could lead to new therapeutics. Amylase is involved in salivary digestion of starch. In a genetic association study of adipose tissue from 149 families and in validation cohorts of more than 6,000 individuals, low copy numbers of the AMY1 gene cluster, which encompasses AMY1A, AMY1B and AMY1C, correlated with high BMI and obesity. In serum from morbidly obese individuals, salivary AMY1 protein levels were lower than those in healthy controls. Next steps include establishing the mechanistic relationship between AMY1 and obesity.

SciBX 7(17); doi:10.1038/scibx.2014.493
Published online May 1, 2014

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Falchi, M. et al. Nat. Genet.; published online March 30, 2014;
Contact: Philippe Froguel, Imperial College London, London, U.K.
Contact: Mario Falchi, same affiliation as above