Enpp1 (pc-1) gene haplotype associated with the risk of obesity and type 2 diabetes and their applications

Abstract

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.

1 . A method for determining if a subject is at increased risk to develop obesity or pathology related to obesity, said method comprising the steps of:
 a) determining the concentration of ENPP1 protein in a plasma sample or serum sample from said subject; and   b) observing whether or not said subject is at increased risk to develop obesity or pathology related to obesity by observing if said concentration of ENPP1 protein is significantly higher in said plasma sample or said serum sample than the level of normal, wherein the presence of said significantly higher concentration of ENPP1 protein in said plasma sample or serum sample indicates that said subject is at increased risk to develop obesity or pathology related to obesity.   
     
     
         2 . The method according to  claim 1 , wherein said significantly higher concentration of ENPP1 protein in said plasma sample or said serum sample is at least more than 10% or more than 15% of the normal plasma or serum concentration. 
     
     
         3 . The method according to  claim 1 , wherein said determining the concentration of ENPP1 protein comprises the use of antibodies capable of specifically recognizing the ENPP1 protein. 
     
     
         4 . The method according to  claim 3 , wherein said antibodies are brought into contact with said plasma sample or said serum sample under conditions allowing the formation of a specific immunological complex between said ENPP1 protein and said antibody, wherein the immunological complexes formed are quantified. 
     
     
         5 . The method according to  claim 1 , wherein the pathology related to obesity is selected from the group consisting of type 2 diabetes, hypertension, hypercholesterolemia and hyperlipidemia.