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Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece

Citation

Kistos, G and Petrou, Z and Grigoriadou, M and Samples, JR and Hewitt, AW and Kokotas, H and Giannoulia-Karantana, A and Mackey, DA and Wirtz, MK and Moschou, M and Ioannidis, JPA and Petersen, MB, Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece, Clinical Ophthalmology, 4, (1) pp. 171-178. ISSN 1177-5467 (2010) [Refereed Article]


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Copyright Statement

Copyright 2010 Kitsos et al, publisher and licensee Dove Medical Press Ltd. Licensed under Creative Commons Attribution - Non Commercial unported 3.0 (CC BY 3.0) http://creativecommons.org/licenses/by/3.0/

Official URL: http://dx.doi.org/10.2147/OPTH.S8974

Abstract

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 restriction enzyme. Statistical analyses were performed by an exact test, the Kaplan-Meier method and the t-test.

Results: In the isolated Chrysovitsa village in the Pindus Mountains, a large POAG family demonstrated the T377M mutation in 20 of 66 family members while no controls from the Epirus region (n = 124) carried this mutation (P < 0.001). Among other POAG cases from Epirus, 2 out of 14 familial cases and 1 out of 80 sporadic cases showed the mutation (P = 0.057). The probability of POAG diagnosis with advancing age among mutation carriers was 23% at age 40, and reached 100% at age 75. POAG patients with the T377M mutation were diagnosed at a mean age of 51 years (SD 13.9), which is younger than the sporadic or familial POAG cases: 63.1 (SD 11) and 66.8 (SD 9.8) years, respectively.

Conclusions: The T377M mutation was found in high proportion in members of the Chrysovitsa family (30.3%), in lower proportion in familial POAG cases (14.2%) and seems rare in sporadic POAG cases (1.2%), while no controls (0%) from the Epirus region carried the mutation. Historical and geographical data may explain the distribution of this mutation within Greece and worldwide.

Item Details

Item Type:Refereed Article
Keywords:founder mutation, GLC1C,MYOC, myocilin, primary open angle glaucoma
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Hewitt, AW (Dr Alex Hewitt)
Author:Mackey, DA (Professor David Mackey)
ID Code:95256
Year Published:2010
Deposited By:Medicine (Discipline)
Deposited On:2014-09-29
Last Modified:2014-11-24
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