Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.
George Kitsos, Zacharias Petrou, Maria Grigoriadou, John R Samples, Alex W Hewitt, Haris Kokotas, Aglaia Giannoulia-Karantana, David A Mackey, Mary K Wirtz, Marilita Moschou, John PA Ioannidis, Michael B Petersen
Clin Ophthalmol | Published : 2010
BACKGROUND: Mutations in the MYOC gene have been shown to explain 5% of unrelated primary open angle glaucoma (POAG) in different populations. In particular, the T377M MYOC mutation has arisen at least three separate times in history, in Great Britain, India, and Greece. The purpose of this study is to investigate the distribution of the mutation among different population groups in the northwestern region of Greece. MATERIALS AND METHODS: We explored the distribution of the "Greek" T377M founder mutation in the Epirus region in Northwestern Greece, which could be its origin. Genotyping was performed in POAG cases and controls by PCR amplification of the MYOC gene, followed by digestion with..View full abstract