LOC387715/ARMS2 studies – gene sequencing as a procedure of choice

• Published in: Acta ophthalmologica (Oxford, England) Vol. 87; no. s244
• Main Authors: WYLEGALA, E, TEPER, S, NOWINSKA, A
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-09-2009
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/j.1755-3768.2009.2147.x

Purpose To search for important mutations in LOC387715/ARMS2 gene.
Methods 80 patients with choroidal neovascularization subsequent to age‐related macular degeneration undergoing anti‐VEGF treatment were screened for LOC387715/ARMS2 mutations. PCR followed by gene sequencing was performed. If polymorphism A69S coexisted with R38STOP gene cloning with pGEM‐T vector was done.
Results R38STOP mutation was found in 5 patients, A69S in 59 patients, in 3 cases R38STOP coexisted with A69S on the other allele. Due to substantial shortening of the R38STOP translation product, the protein is probably not effective. In patients with A69S polymorphism coexisting with R38STOP there is only A69S effective allele – so patients should be treated as A69S homozygous.
Conclusion There is increasing number of studies with A69S variant of ARMS2 but only gene sequencing provide reliable date in these cases. If R38STOP is taken into account, A69S is even more important AMD risk factor. Gene sequencing is advisable in studies with LOC387715/ARMS2.