DACH1 as a Biomarker for Diabetes

Abstract

The present invention provides a method for assessing the presence and risk of developing type 2 diabetes or cardiovascular disease in a subject by detecting sequence variation in DACH1 (Dachshund homolog 1) gene. A kit and device useful for such a method are also provided. In addition, the present invention provides a method for treating type 2 diabetes or cardiovascular disease in patients who have been tested and shown to have the pertinent genetic variations.

1 . A method for assessing the presence or risk of type 2 diabetes or cardiovascular disease in a subject, comprising the steps of:
 (a) performing an assay that determines nucleotide sequence of at least a portion of genomic sequence of DACH1 (Dachshund homolog 1) present in a biological sample taken from the subject,   (b) detecting a T allele of polymorphism rs1408888, and   (c) determining that the subject has or is at risk of developing type 2 diabetes or cardiovascular disease.   
     
     
         2 . The method of  claim 1 , wherein the sample is a blood or saliva sample. 
     
     
         3 . The method of  claim 1 , wherein the subject is of an Asian descent. 
     
     
         4 . The method of  claim 1 , wherein the subject has a BMI greater than 27 kg/m 2  and/or waist greater than 90 cm if the subject is a man or greater than 80 cm if the subject is a woman. 
     
     
         5 . The method of  claim 1  wherein the subject has a BMI less than 20 kg/m 2 . 
     
     
         6 . The method of  claim 1 , wherein the subject is younger than 20 years old. 
     
     
         7 . The method of  claim 1 , wherein the subject was diagnosed of diabetes at an age younger than 40 years old and is assessed for the presence or risk of developing cardiovascular disease. 
     
     
         8 . The method of  claim 1 , wherein the subject has a family history of type 2 diabetes or cardiovascular disease but has not been diagnosed of type 2 diabetes or cardiovascular disease. 
     
     
         9 . The method of  claim 1 , wherein the assay in step (a) comprises an amplification reaction. 
     
     
         10 . The method of  claim 9 , wherein the amplification reaction is a polymerase chain reaction (PCR). 
     
     
         11 . The method of  claim 1 , wherein the assay in step (a) comprises mass spectrometry. 
     
     
         12 . The method of  claim 1 , wherein, when the subject is indicated as having or at risk of developing type 2 diabetes or cardiovascular disease, further comprising the step of administering to the subject a cholesterol lowering drug or a blood glucose lowering drug. 
     
     
         13 . The method of  claim 1 , wherein the polymorphism rs1408888 detected in step (c) is a TT genotype. 
     
     
         14 - 16 . (canceled)