Polymorphisms Associated With Age-Related Macular Degeneration and Methods for Evaluating Patient Risk
AssigneesTufts Medical Center, Inc., The General Hospital Corporation
InventorsJohanna M. Seddon, Mark J. Daly
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Abstract
The present invention provides for certain polynucleotide sequences that have been correlated to AMD. These polynucleotides are useful as diagnostics, and are preferably used to fabricate an array, useful for screening patient samples. The array is used as part of a laboratory information management system, to store and process additional patient information in addition to the patient's genomic profile. As described herein, the system provides an assessment of the patient's risk for developing AMD, risk for disease progression, and the likelihood of disease prevention based on patient controllable factors.
Claims15
A method for diagnosing age-related macular degeneration or a susceptibility to age-related macular degeneration comprising detecting the presence or absence of a particular allele at a polymorphic site associated with complement factor I, wherein the allele is indicative of age-related macular degeneration or a susceptibility to age-related macular degeneration.
A purified polynucleotide comprising the polymorphic site and at least about six or more contiguous nucleotides of one or more of the sequences given as SEQ ID NOS:8, 9 or 10, wherein the minor allele is present at the polymorphic site.
A method of determining the risk of a subject for developing age-related macular degeneration, comprising detecting the presence or absence of one or more alleles at one or more polymorphic sites associated with complement factor I and age-related macular degeneration, wherein the sample is from a subject who is determined to be as risk for developing age-related macular degeneration due to one or more environmental risk factors.
Dependencies are inferred from the claim text.