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

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...

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Autores principales: Kitsos, George, Petrou, Zacharias, Grigoriadou, Maria, Samples, John R, Hewitt, Alex W, Kokotas, Haris, Giannoulia-Karantana, Aglaia, Mackey, David A, Wirtz, Mary K, Moschou, Marilita, Ioannidis, John PA, Petersen, Michael B
Formato: Texto
Lenguaje:English
Publicado: Dove Medical Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850831/
https://www.ncbi.nlm.nih.gov/pubmed/20390039
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author Kitsos, George
Petrou, Zacharias
Grigoriadou, Maria
Samples, John R
Hewitt, Alex W
Kokotas, Haris
Giannoulia-Karantana, Aglaia
Mackey, David A
Wirtz, Mary K
Moschou, Marilita
Ioannidis, John PA
Petersen, Michael B
author_facet Kitsos, George
Petrou, Zacharias
Grigoriadou, Maria
Samples, John R
Hewitt, Alex W
Kokotas, Haris
Giannoulia-Karantana, Aglaia
Mackey, David A
Wirtz, Mary K
Moschou, Marilita
Ioannidis, John PA
Petersen, Michael B
author_sort Kitsos, George
collection PubMed
description 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.
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spelling pubmed-28508312010-04-13 Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece Kitsos, George Petrou, Zacharias Grigoriadou, Maria Samples, John R Hewitt, Alex W Kokotas, Haris Giannoulia-Karantana, Aglaia Mackey, David A Wirtz, Mary K Moschou, Marilita Ioannidis, John PA Petersen, Michael B Clin Ophthalmol Original Research 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. Dove Medical Press 2010 2010-03-24 /pmc/articles/PMC2850831/ /pubmed/20390039 Text en © 2010 Kitsos et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.
spellingShingle Original Research
Kitsos, George
Petrou, Zacharias
Grigoriadou, Maria
Samples, John R
Hewitt, Alex W
Kokotas, Haris
Giannoulia-Karantana, Aglaia
Mackey, David A
Wirtz, Mary K
Moschou, Marilita
Ioannidis, John PA
Petersen, Michael B
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title_full Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title_fullStr Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title_full_unstemmed Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title_short Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
title_sort primary open angle glaucoma due to t377m myoc: population mapping of a greek founder mutation in northwestern greece
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850831/
https://www.ncbi.nlm.nih.gov/pubmed/20390039
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