Genetic testing for early detection of autoimmune diseases
AssigneeNew York Society for the Relief of the Ruptured and Crippled, maintaining the Hospital for Special S
InventorsTimothy Niewold, Ilona Nln
Life of this patent
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Abstract
Methods for detecting an autoimmune disease or a high risk of developing an autoimmune disease in a subject are provided. In a first aspect, a sample from the subject for a haplotype of IRF5 is assayed. The sample is further assayed for a HLA risk allele pair. It is then detected whether the subject has an autoimmune disease or is at high risk for an autoimmune disease when a haplotype of IRF5 and a HLA risk allele pair are present in the sample. The autoimmune disease can be lupus erythematosus (SLE), Sjögren's syndrome (SS), or other autoimmune diseases.
Claims18
A method of detecting an autoimmune disease or a high risk of developing an autoimmune disease in a subject, comprising:
- a. assaying a sample from the subject for a haplotype of IRF5;
- b. further assaying the sample for a HLA risk allele pair;
- and
- c. detecting that the subject has an autoimmune disease or is at high risk for an autoimmune disease when a haplotype of IRF5 and a HLA risk allele pair is present in the sample.
A method of detecting systemic lupus erythematosus (SLE) and/or Sjögren's syndrome (SS) or a high risk of developing SLE and/or SS in a subject, comprising:
- a. assaying a sample from the subject for one of the IRF5/HLA allele combinations listed in Table 1 or listed in Table 6;
- and
- b. detecting that the subject has SLE and SS or is at high risk of SLE or SS when an IRF5/HLA allele combination in the sample is listed for a high risk or medium risk group for SLE and/or SS.
A method to identify genetic risk factors for autoimmune diseases using allele/haplotype combinations in a multi-dimensional/multi-locus model of HLA and IRF5 genes, comprising:
- a. identifying HLA/IRF5 risk factor combinations from HLA allele pairs and IRF5 haplotypes, analyzing the epistatic effects of the HLA/IRF5 combinations, and assigning each analyzed HLA/IRF5 combination to either a high risk group, medium risk group or a low risk group;
- b. identifying HLA/IRA5 risk factor combinations from 2-dimensional HLA allele pairs and IRF5 haplotypes, analyzing the epistatic effects of the HLA/IRF5 combinations, and assigning each analyzed HLA/IRF5 combination to either a high risk group, medium risk group or a low risk group;
- c. identifying HLA/IRF5 risk factor combinations from 3-dimensional HLA allele pairs and IRF5 haplotype, analyzing the epistatic effects of the HLA/IRF5 combinations, and assigning each analyzed HLA/IRF5 combination to either a high risk group, medium risk group or a low risk group;
- and
- d. combining the identified HLA/IRF5 risk factor combinations in the high risk and medium risk groups from steps a., b., and c. to identify genetic risk factors for autoimmune diseases.
Dependencies are inferred from the claim text.