Nucleic acid molecules encoding bank1 splice variants

Abstract

The present invention relates to a new splice variant of BANK1, the use of SNPs in BANK1 for diagnostics and the use of antagonists to modulate BANK1 and/or the BANK1 pathway.

1 . A method for genotyping comprising the steps of:
 a) isolating a nucleic acid from a sample of an individual; and   b) determining in B-cell scaffold protein with ankyrin repeats (BANK1) encoding nucleic acid whether: biallelic marker rs10516487 is present as a guanine or an adenine, biallelic marker rs17266594 is present as a thymine or a cytosine, and/or biallelic marker rs3733197 is present as an adenine or a guanine.   
     
     
         2 . The method according to  claim 1 , wherein the nucleotides at said biallelic markers are determined for both copies of said biallelic markers present in said individual's genome. 
     
     
         3 . The method according to  claim 1 , wherein said determining is performed by a microsequencing assay. 
     
     
         4 . The method according to  claim 1 , further comprising amplifying a portion of a sequence comprising the biallelic marker prior to said determining step. 
     
     
         5 . The method according to  claim 4 , wherein said amplifying is performed by PCR. 
     
     
         6 . The method according to  claim 1 , further comprising the step of correlating the result of the genotyping steps with a risk of suffering or a predisposition for an auto-immune disease or inflammatory disease. 
     
     
         7 . The method according to  claim 1 , wherein the presence of a guanine in rs10516487, a thymine in rs17266594 and a thymine in rs3733197 in said individual indicates that said individual suffers from, has a predisposition for or is at risk of suffering from said auto-immune disease or inflammatory disease. 
     
     
         8 . The method according to  claim 7 , wherein the disease is Systemic Lupus Erythrematosus or Multiple Sclerosis. 
     
     
         9 . A method for detecting whether an individual has a predisposition for or is at risk of an auto-immune disease or inflammatory disease comprising the steps:
 a) isolating the nucleic acid of an individual;   b) detecting and quantifying the BANK1 full length nucleic acid;   c) detecting and quantifying the BANK1 delta 2 nucleic acid; and   d) determining the ratio b./c. and/or c./b. of the results of step b) and c).   
     
     
         10 . The method according to  claim 9 , wherein the nucleic acid is a mRNA, cRNA or cDNA. 
     
     
         11 . A method for the treatment of diseases selected from auto-immune or inflammatory diseases comprising the administration of an antagonist targeting BANK1, the biological pathway of BANK1 and/or factors connected to the BANK1 pathway. 
     
     
         12 . The method according to  claim 11 , wherein the disease is Systemic Lupus Erythrematosus or Multiple Sclerosis. 
     
     
         13 . The method according to  claim 11 , wherein the antagonist targets BANK1, LYN and/or IP3R or their interaction. 
     
     
         14 . The method according to  claim 13 , wherein the antagonist targets the nucleic acid of BANK1. 
     
     
         15 . The method according to  claim 11 , wherein the antagonist is an anti-sense RNA, siRNA, an aptamer, a peptide, an antibody or fragment thereof or a small molecule.