Variants in Complement Regulatory Genes Predict Age-Related Macular Degeneration
AssigneesUniversity of Iowa Research Foundation, National Institutes of Health, The Trustees of Columbia University in the City of New York
InventorsRando L. Allikmets, Gregory S. Hageman, Michael C. Dean, Albert M. Gold
Life of this patent
Estimating the term…
Abstract
Methods for identifying a subject at risk for developing AMD are disclosed, as are kits which can be used to practice the methods. The methods include identifying specific protective or risk polymorphisms or genotypes from the subject's genetic material, including polymorphisms in the BF, C2 and/or CFH genes. Microarrays and kits for use in these methods are also provided.
Claims18
A method for assessing the risk of development of, or likely progression of, disease characterized by alternative complement cascade disregulation, including macular degeneration, in a human subject, the method comprising the steps of:
- i) obtaining a biological sample from a human subject;
- ii) analyzing the sample to determine whether the subject carries one or more of:
- a) A or G at rs641153 of the complement factor B (BF) gene, or R or Q at position 32 of the BF protein;
- b) A or T at rs4151667 of the BF gene, or L or H at position 9 of the BF protein;
- c) G or T at rs547154 of the C2 gene;
- and
- d) C or G at rs9332379 of the C2 gene, or E or D at position 318 of the C2 protein.
A kit for assessing the risk of development of, or likely progression of, disease characterized by alternative complement cascade disregulation, including macular degeneration, in a humans subject, the kit comprising reagents for detecting in a sample from the subject one or more of the polymorphisms or one or more of the allelic variants:
- a) A or G at rs641153 of the complement factor B (BF) gene, or R or Q at position 32 of the BF protein;
- b) A or T at rs451667 of the BF gene, or L or H at position 9 of the BF protein;
- c) G or T at rs547154 of the C2 gene;
- and,
- d) C or G at rs9332379 of the C2 gene, or E or D at position 318 of the C2 protein;
A microarray comprising oligonucleotide probes capable of hybridizing under stringent conditions to one or more nucleic acid molecules having a protective polymorphism selected from the group consisting of:
- a) R32Q in BF (rs641153);
- b) L9H in BF (rs4151667);
- c) IVS 10 in C2 (rs547154);
- and,
- d) E318D in C2 (rs9332739).
Dependencies are inferred from the claim text.