Method for determination of onset risk of glaucoma

Abstract

A method of determining the presence or the absence of a glaucoma risk by detecting in vitro an allele and/or a genotype of a single nucleotide polymorphism, comparing the allele and/or the genotype detected with at least one of an allele and/or a genotype with a high-risk allele, wherein the presence of a glaucoma risk is determined in a case where the allele detected is the high-risk allele, or the presence of a glaucoma risk is determined in a case where the genotype detected is a homozygote of the genotype comprising the high-risk allele or a heterozygote when the high-risk allele complies with a dominant genetic model, or the presence of a glaucoma risk is determined in a case where the genotype detected is a homozygote of the genotype comprising the high-risk allele when the high-risk allele complies with a recessive genetic model.

1 . A method of determining the presence or the absence of a glaucoma risk, comprising:
 A. detecting in vitro an allele and/or a genotype of a single nucleotide polymorphism which is located on a 31st base of a base sequence, in a sample from a subject, wherein the base sequence is at least one base sequence selected from the group consisting of SEQ ID NO: 275 and SEQ ID NO: 276 or a complementary sequence thereto, and   B. comparing the allele and/or the genotype detected in with at least one of an allele and/or a genotype, comprising a high-risk allele, in SEQ ID NO: 275 and SEQ ID NO: 276,   wherein the presence of a glaucoma risk is determined in a case where the allele detected in A is the high-risk allele, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote of the genotype comprising the high-risk allele or a heterozygote when the high-risk allele complies with a dominant genetic model, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote of the genotype comprising the high-risk allele when the high-risk allele complies with a recessive genetic model.   
     
     
         2 . The method according to  claim 1 , wherein the glaucoma risk is an onset risk of glaucoma. 
     
     
         3 . The method according to  claim 2 , wherein the base sequence is SEQ ID NO: 275. 
     
     
         4 . The method according to  claim 3 , wherein the comparison in B further comprises selecting and combining any two or more alleles and/or genotypes, comprising the high-risk allele, in the base sequences shown in SEQ ID NOs: 203 to 238,
 wherein the presence of a glaucoma risk is determined in a case where the allele detected in A is any one of the alleles selected for the comparison in B, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote or a heterozygote of any one of the genotypes selected for the comparison in B when the high-risk allele complies with a dominant genetic model, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote of any one of the genotypes selected for the comparison in B when the high-risk allele complies with a recessive genetic model.   
     
     
         5 . The method according to  claim 4 , wherein the comparison in B further comprises selecting and combining all the alleles and/or the genotypes, comprising the high-risk allele, in the base sequences shown in SEQ ID NOs: 203 to 238,
 wherein the presence of a glaucoma risk is determined in a case where the allele detected in A is any one of the alleles selected for the comparison in B, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote or a heterozygote of any one of the genotypes selected for the comparison in the B when the high-risk allele complies with a dominant genetic model, or   wherein the presence of a glaucoma risk is determined in a case where the genotype detected in A is a homozygote of any one of the genotypes selected for the comparison in B when the high-risk allele complies with a recessive genetic model.   
     
     
         6 . The method according to  claim 2 , further comprising predicting the level of the onset risk. 
     
     
         7 . The method according to  claim 1 , wherein the glaucoma is primary open-angle glaucoma (POAG) or normal tension glaucoma (NTG). 
     
     
         8 - 27 . (canceled) 
     
     
         28 . A method of determining the presence or the absence of a glaucoma risk, comprising:
 (i): extracting a nucleic acid molecule from a sample from a subject,   (ii): detecting an allele of a single nucleotide polymorphism which is located on a 31st base of a base sequence, wherein the base sequence is at least one base sequence selected from the group consisting of SEQ ID NO: 275 and SEQ ID NO: 276 or a complementary sequence thereto, for the nucleic acid molecule extracted in (i), and   (iii): determining the presence or the absence of a glaucoma risk, based on the allele detected in (ii).   
     
     
         29 . The method according to  claim 28 , wherein (iii) comprises determining a genotype, based on the allele detected in (ii). 
     
     
         30 . The method according to  claim 28 , wherein (iii) comprises the step of determining whether or not the allele detected in (ii) is a high-risk allele. 
     
     
         31 . The method according to  claim 30 , wherein (iii) comprises the step of determining that the glaucoma risk is high in a case where the allele detected in (ii) is the high-risk allele. 
     
     
         32 - 34 . (canceled) 
     
     
         35 . The method according to  claim 2 , wherein the base sequence is SEQ ID NO: 276. 
     
     
         36 . The method according to  claim 28 , wherein the base sequence is SEQ ID NO: 275. 
     
     
         37 . The method according to  claim 28 , wherein the base sequence is SEQ ID NO: 276.