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Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds

Citation

Hewitt, AW and Samples, JR and Allingham, RR and Jarvela, I and Kitsos, G and Krishnadas, SR and Richards, JE and Lichter, PR and Petersen, MB and Sundaresan, P and Wiggs, JL and Mackey, DA and Wirtz, MK, Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds, Molecular Vision, 13, (50-51) pp. 487-492. ISSN 1090-0535 (2007) [Refereed Article]


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Licensed under Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported (CC BY-NC-ND 3.0) http://creativecommons.org/licenses/by-nc-nd/3.0/

Official URL: http://www.molvis.org/molvis/v13/a51/

Abstract

Purpose: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds.

Methods: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms. The families were from Greece, India, Finland, the USA, and Australia. To assess the degree of linkage disequilibrium across MYOC in the general population we also investigated data generated from the HapMap consortium.

Results: Three distinct haplotypes associated with the Thr377Met myocilin mutation were identified. The families from the USA and Greece, as well as the three Australian families originating from Greece and the former Yugoslavian Republic of Macedonia had one common haplotype. Interestingly, however, HapMap data suggest that linkage disequilibrium across MYOC was not strong.

Conclusions: The Thr377Met myocilin mutation has arisen at least three separate times. Evidence for genetic founder effects in this prevalent age-related, yet heterogeneous, disease has important implications for future gene identification strategies.

Item Details

Item Type:Refereed Article
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:50042
Year Published:2007
Web of Science® Times Cited:11
Deposited By:Medicine (Discipline)
Deposited On:2007-08-01
Last Modified:2014-11-03
Downloads:160 View Download Statistics

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