IMPACT OF GENETIC FACTORS ON DISEASE PROGRESSION AND RESPONSE TO ANTI-C5 ANTIBODY IN GEOGRAPHIC ATROPHY

摘要

Pharmacogenetic analysis revealed an effect of risk alleles in ARMS2 and CFH genes on the response of subjects to anti-C5 antibodies in the treatment of the progression of geographic atrophy.

主权项

1. A method of diagnosing the progression of geographic atrophy (GA) in a subject, the method comprising:
(a) obtaining a sample from a subject; (b) screening the sample for risk alleles selected from alleles in the group of genes consisting of ARMS2, HTRA1 and CFH; (c) comparing the results of the screening to the results from a screening of an allele control sample; and (d) determining that the presence of the risk alleles in the sample indicates an increase in the subject's risk of progression of GA, wherein either:
(i) the presence of at least two ARMS2 risk alleles is determined to be indicative of the progression of GA in the subject; or(ii) the presence of at least three risk alleles selected from the group of genes consisting of ARMS2 and CFH is determined to be indicative of the progression of GA in the subject.