Centre National De La Recherche Scientifique

Arch Development Corporation

Universite De Droit De La La Sante De Lille 2

Université Du Droit Et De La Santé De Lille 2

Philippe Froguel

Graeme I Bell

Kazuki Yasuda

Jun Takeda

Habib Zouali

Daniel Cohen

Markus Stoffel

Christian Dina

Gilberto Velho

Nathalie Vionnet

David Meyre

Philippe Boutin

Simon J Pilkis

The present invention is directed to a method for determining if a subject is at increased risk to develop obesity or pathology related to obesity by determining the presence of a haplotype comprising three specific SNPs in a DNA or RNA sample of this subject and/or an elevated serum ENPP1 protein concentration. The present invention also relates to a kit and to an isolated nucleic sequence, vector or recombinant cell comprises said ENPP1 gene haplotype. The invention further comprises a method for selecting a compound for the treatment or the prevention of obesity or pathology related to obesity and a method for determining the efficacy of a drug to reduce the risk of obesity or pathology related to obesity in a patient.

ENPP1 (PC-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

The invention relates to the observed tight linkage between DNA polymorphisms in the glucokinase gene (GCK) on the short arm of chromosome 7, and NIDDM in a cohort of sixteen French families having MODY. It further relates to identification of mutations in GCK and their linkage with diabetes in particular families are disclosed. This invention provides the first evidence implicating specific mutations in a gene involved in glucose metabolism in the pathogenesis of NIDDM. The invention further discloses the isolation and characterization of human pancreatic .beta.-cell GCK and a method for searching for mutations that cause early-onset NIDDM. To assess the effect of these mutations on glucokinase activity, a method is disclosed for generating an .alpha.-carbon backbone model for human glucokinase based on the crystal structure of the structurally-related yeast hexokinase B. Thus, in its most general sense, the invention relates to a method for detecting a propensity to develop early-onset, non-insulin-dependent diabetes mellitus.

Detection of glucokinase-linked early-onset non-insulin-dependent

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Bagnolet, France

Philippe Froguel