Susceptibility genes for age-related maculopathy (ARM) on chromosome 10q26
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1. A method of determining risk of developing Age-Related Maculopathy in a human subject comprising detecting the presence of a thymine or guanine at base 270 of SEQ ID NO:
- 20 (rs10490924) from a sample obtained from the subject, wherein the presence of thymine for one or both alleles indicates increased risk of developing Age-Related Maculopathy and the presence of guanine for both alleles indicates decreased risk of developing Age-Related Maculopathy.
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Abstract
Allelic variations in the genes PLEKHA1 and LOC387715 are identified herein as risk factor for Age Related Maculopathy (ARM). A method is therefore provided for identifying a risk of development of ARM in an individual that comprises identification of allelic variations in PLEKHA1 and/or LOC387715. Related apparatus, such as an array, are identified as being useful in implementing those methods.
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12 Claims
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1. A method of determining risk of developing Age-Related Maculopathy in a human subject comprising detecting the presence of a thymine or guanine at base 270 of SEQ ID NO:
- 20 (rs10490924) from a sample obtained from the subject, wherein the presence of thymine for one or both alleles indicates increased risk of developing Age-Related Maculopathy and the presence of guanine for both alleles indicates decreased risk of developing Age-Related Maculopathy.
- View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
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12. A method of determining risk of developing Age-Related Maculopathy in a human subject comprising identifying an allelic variant isoform of the gene product of LOC387715, wherein said allelic variant isoform is either Ser or Ala at position 69 of LOC387715, wherein the presence of Ser indicates increased risk of developing Age-Related Maculopathy and the presence of Ala indicates decreased risk of developing Age-Related Maculopathy.
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