Detection of susceptibility to autoimmune diseases

Abstract

The present invention provides methods and reagents for determining sequence variants present at the IL4 receptor, IL-4 and IL-13 loci, which facilitate identifying individuals at risk for type 1 diabetes.

1 . A method for determining an individual's risk for type 1 diabetes comprising detecting the presence of at least one type 1 diabetes-associated IL4R, IL4, or IL13 polymorphism in a nucleic acid sample of the individual, wherein the presence of said polymorphism indicates the individual's risk for type 1 diabetes.  
     
     
         2 . The method of  claim 1 , further comprising detecting at least one other polymorphism and wherein said polymorphisms comprise a haplotype.  
     
     
         3 . The method of  claim 1 , wherein the nucleic acid sample comprises DNA.  
     
     
         4 . The method of  claim 1 , wherein the nucleic acid sample comprises RNA.  
     
     
         5 . The method of  claim 1 , wherein the at least one polymorphism is detected by amplification.  
     
     
         6 . The method of  claim 5 , wherein the at least one polymorphism is detected by a polymerase chain reaction.  
     
     
         7 . The method of  claim 1 , wherein the at least one polymorphism is detected by sequencing.  
     
     
         8 . The method of  claim 1 , wherein the at least one polymorphism is detected by amplifying a target region containing the at least one polymorphism; hybridization of at least one sequence-specific oligonucleotides that hybridizes under stringent conditions to the at least one polymorphism; and detecting the hybridization.  
     
     
         9 . The method of  claim 1 , wherein the at least one polymorphism is selected from the list of polymorphisms listed in Table 2.  
     
     
         10 . The method of  claim 1 , wherein the at least one polymorphism is selected from the list of polymorphisms listed in Table 21.  
     
     
         11 . The method of  claim 10 , wherein the at least one polymorphism is a combination of two or more polymorphisms selected from the polymorphisms listed in Table 21.  
     
     
         12 . The method of  claim 1 , wherein the at least one polymorphism is an IL4R polymorphism.  
     
     
         13 . The method of  claim 12 , further comprising detecting at least one IL13 polymorphism.  
     
     
         14 . The method of  claim 12 , further comprising detecting at least one IL4 polymorphism.  
     
     
         15 . A kit for determining an individual's risk for type 1 diabetes, where the kit comprises at least one sequence-specific oligonucleotide that comprises a sequence that hybridizes under stringent condition to at least one type 1 diabetes-associated IL4R, IL4, or IL13 polymorphism.  
     
     
         16 . The kit of  claim 15 , further comprising reagents for the amplification of a target region, wherein said target region comprises the at least one polymorphism.  
     
     
         17 . The kit of  claim 16 , wherein said reagents for amplification comprise at least one primer.  
     
     
         18 . The kit of  claim 15 , wherein said at least one sequence-specific oligonucleotide is labeled.  
     
     
         19 . The kit of  claim 15 , further comprising a reagent to detect the label.  
     
     
         20 . The kit of  claim 15 , wherein the at least one polymorphism is selected from the list of polymorphisms set forth in Table 21.