Accepted_test

Functional significance of polymorphisms of the PLA2G12A, CFH, ARMS2 and C3 genes, associated with the development of age-related macular degeneration.
by Rumyantseva Yuliya | ICG SB RAS
Abstract ID: 700
Event: BGRS-abstracts
Sections: Section “Genetics and systems biology of aging”

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We analyzed in silico the functional significance of the polymorphic loci of the PLA2G12A (rs2285714), CFH (rs800292, rs6677604), ARMS2 (rs10490924) and C3 (rs2230199) genes associated with the response to anti-VEGF therapy for AMD using databases (SIFT, SNPinfo, PolyPhen-2, HaploReg, GTExportal, RegulomeDB) and confirmed the regulatory potential of these polymorphic loci (non-synonymous substitutions, epigenetic effects, association with gene expression, associations with alternative splicing of gene transcripts).