Compositions and methods for diagnosing and treating macular degeneration

Abstract

The present invention relates generally to biomarkers for macular degeneration. In particular, the present invention provides a plurality of biomarkers for monitoring and diagnosing macular degeneration. The compositions and methods of the present invention find use in diagnostic, therapeutic, research, and drug screening applications.

1 . A method for characterizing a human subject as having an increased risk for developing age-related macular degeneration (AMD), said method comprising: detecting in a sample obtained from said subject the presence of at least one G allele of the rs12678919 single nucleotide polymorphism; wherein the presence of at least one G allele of the rs12678919 single nucleotide polymorphism is indicative of an increased risk for developing AMD. 
     
     
         2 . The method of  claim 1 , further comprising detecting in said sample obtained from said subject the presence of one or more of: at least one A allele of the rs10737680 single nucleotide polymorphism, at least one G allele of the rs3793917 single nucleotide polymorphism, at least one G allele of the rs429608 single nucleotide polymorphism, at least one C allele of the rs2230199 single nucleotide polymorphism, at least one T allele of the rs2285714 single nucleotide polymorphism, at least one T allele of the rs1329424 single nucleotide polymorphism, at least one A allele of the rs9380272 single nucleotide polymorphism, at least one A allele of the rs9621532 single nucleotide polymorphism, at least one C allele of the rs493258 single nucleotide polymorphism, at least one A allele of the rs3764261 single nucleotide polymorphism, and at least one C allele of the rs1883025 single nucleotide polymorphism. 
     
     
         3 . The method of  claim 2 , wherein said method comprises detecting the presence of two or more of: at least one A allele of the rs10737680 single nucleotide polymorphism, at least one G allele of the rs3793917 single nucleotide polymorphism, at least one G allele of the rs429608 single nucleotide polymorphism, at least one C allele of the rs2230199 single nucleotide polymorphism, at least one T allele of the rs2285714 single nucleotide polymorphism, at least one T allele of the rs1329424 single nucleotide polymorphism, at least one A allele of the rs9380272 single nucleotide polymorphism, at least one A allele of the rs9621532 single nucleotide polymorphism, at least one C allele of the rs493258 single nucleotide polymorphism, at least one A allele of the rs3764261 single nucleotide polymorphism, and at least one C allele of the rs1883025 single nucleotide polymorphism. 
     
     
         4 . The method of  claim 2 , wherein said method comprises detecting the presence of six or more of: at least one A allele of the rs10737680 single nucleotide polymorphism, at least one G allele of the rs3793917 single nucleotide polymorphism, at least one G allele of the rs429608 single nucleotide polymorphism, at least one C allele of the rs2230199 single nucleotide polymorphism, at least one T allele of the rs2285714 single nucleotide polymorphism, at least one T allele of the rs1329424 single nucleotide polymorphism, at least one A allele of the rs9380272 single nucleotide polymorphism, at least one A allele of the rs9621532 single nucleotide polymorphism, at least one C allele of the rs493258 single nucleotide polymorphism, at least one A allele of the rs3764261 single nucleotide polymorphism, and at least one C allele of the rs1883025 single nucleotide polymorphism. 
     
     
         5 . The method of  claim 2 , wherein said method comprises detecting the presence of each of: at least one A allele of the rs10737680 single nucleotide polymorphism, at least one G allele of the rs3793917 single nucleotide polymorphism, at least one G allele of the rs429608 single nucleotide polymorphism, at least one C allele of the rs2230199 single nucleotide polymorphism, at least one T allele of the rs2285714 single nucleotide polymorphism, at least one T allele of the rs1329424 single nucleotide polymorphism, at least one A allele of the rs9380272 single nucleotide polymorphism, at least one A allele of the rs9621532 single nucleotide polymorphism, at least one C allele of the rs493258 single nucleotide polymorphism, at least one A allele of the rs3764261 single nucleotide polymorphism, and at least one C allele of the rs1883025 single nucleotide polymorphism. 
     
     
         6 . The method of  claim 1 , further comprising detecting in said sample obtained from said subject the presence of one or both of: at least one A allele of the rs3764261 single nucleotide polymorphism, and at least one C allele of the rs1883025 single nucleotide polymorphism. 
     
     
         7 . The method of  claim 1 , further comprising detecting in said sample obtained from said subject the presence of one or both of: at least one A allele of the rs9621532 single nucleotide polymorphism, at least one C allele of the rs493258 single nucleotide polymorphism. 
     
     
         8 . The method of  claim 1 , further comprising detecting in said sample obtained from said subject the presence of one or more of: at least one A allele of the rs10737680 single nucleotide polymorphism, at least one G allele of the rs3793917 single nucleotide polymorphism, at least one G allele of the rs429608 single nucleotide polymorphism, at least one C allele of the rs2230199 single nucleotide polymorphism, at least one T allele of the rs2285714 single nucleotide polymorphism, at least one T allele of the rs1329424 single nucleotide polymorphism, at least one A allele of the rs9380272 single nucleotide polymorphism.