Genetic factors determine outcome of PDT for AMD

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Feb 18, 2012, 12:59:33 AM2/18/12
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A new study finds an association between complement factor H (CFH),
high-temperature requirement A-1 (HTRA1), vascular endothelial growth
factor (VEGF), and pigment epithelium-derived factor (PEDF) genotypes
and response to treatment with photodynamic therapy (PDT) for
age-related macular degeneration (AMD) in a Japanese population.

Studies have identified several major chromosomal regions, including
1q31 and 10q26 that are associated with the incidence of are-related
macular degeneration (AMD). Recently, the complement factor H (CFH)
gene on chromosome 1q31 has been demonstrated as the major AMD
susceptibility gene. Genetic variants at another chromosomal locus,
10q26 also confers strong disease risk, including age-related
maculopathy susceptibility (ARMS2) and high-temperature requirement
factor A1 (HTRA1) genes.

Other efforts are underway to identify genetic and/or pharmacologic
biomarkers that may predict response to therapy, thereby contributing
important information to clinical decision making and care. Known and
novel phenotypic biomarkers, those that associate with or predict
variation in an individual’s state of health or predict the
consequences of altered genes on protein expression, are strategic
candidates for evaluation. Recently, a genetic variant of CFH Y402H
was reported to be associated with responses to photodynamic therapy
(PDT) and to anti–vascular endothelial growth factor (VEGF) therapy.

The phenotypic and genotypic characteristics of Asian and Japanese AMD
is unique from those of Caucasian AMD. For example, the incidence of
polypoidal choroidal vasculopathy in the Asian populations with
neovascular AMD has been reported to be as high as 20% to 55%, whereas
the incidence is

Ophthalmology. 2011 Jan;118(1):93-100

http://www.ncbi.nlm.nih.gov/pubmed/20678803

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