Journal article

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population

S Patel, JAL Minton, MN Weedon, TM Frayling, C Ricketts, GA Hitman, MI McCarthy, AT Hattersley, M Walker, TG Barrett

DIABETOLOGIA | SPRINGER | Published : 2006


AIMS/HYPOTHESIS: Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes. Rare mutations in the ALMS1 gene cause severe gene disruption in Alström patients; however, ALMS1 gene polymorphisms are common in the general population. The aim of our study was to determine whether common variants in ALMS1 contribute to susceptibility to type 2 diabetes in the UK population. METHODS: Direct sequencing was performed on coding regions and intron/exon boundaries of the ALMS1 gene in 30 unrelated probands with type 2 diabetes. The linkag..

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University of Melbourne Researchers