Variants in complement regulatory genes predict age-related macular degeneration
AssigneesUniversity of Iowa Research Foundation, The Trustees of Columbia University in the City of New York, The United States of America, as represented by the Secretary, Department of Health and Human Services
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.
Claims10
A method for assessing the risk of development of, or likely progression of, age-related macular degeneration (AMD) in a human subject, the method comprising
- determining 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 rs9332739 of the C2 gene, or E or D at position 318 of the C2 protein.
Dependencies are inferred from the claim text.