Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Variation in optineurin (OPTN) allele frequencies between and within populations
Molecular Vision, Volume 13, Year 2007
Notification
URL copied to clipboard!
Description
Purpose: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations. Methods: Case-controlled study of OPTN sequence variants in individuals with or without glaucoma in populations of different ancestral origins and evaluate previous OPTN reports. We analyzed 314 subjects with African, Asian, Caucasian and Hispanic ancestries included 229 cases of primary open-angle glaucoma, 51 cases of juvenile-onset open-angle glaucoma, 33 cases of normal tension glaucoma, and 371 controls. Polymerase chain reaction-amplified OPTN coding exons were resequenced and case frequencies were compared to frequencies in controls matched for ancestry. Results: The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia. The R545Q variant was found in two Asian individuals with primary open-angle glaucoma; one of Filipino ancestry and one of Korean ancestry. In addition to presenting OPTN allele frequencies for Caucasian and Asian populations that have been the subject of previous reports, we also present information for populations of Hispanic and black African ancestries. Conclusions: Our study contributes additional evidence to support the previously reported association of the OPTN E50K mutation with glaucoma. After finding an additional 691_692insAG OPTN variant, we can still only conclude that this variant is rare. Combined analysis of our data with data from more than a dozen other studies indicates no association of R545Q with glaucoma in most populations. Those same studies disagree in their conclusions regarding the role of M98K in glaucoma. Our analysis of the combined data provides statistically significant evidence of association of M98K with normal tension glaucoma in Asian populations, but not in Caucasian populations; however, the validity of this conclusion is questionable because of large differences in allele frequencies between and within populations. It is currently not possible to tell how much of the underlying cause of the allele frequency difference is attributable to demographic, technical, or ascertainment differences among the studies. © 2006 Molecular Vision.
Authors & Co-Authors
Ayala-Hugo, Rosa M.
United States, Ann Arbor
University of Michigan, Ann Arbor
Paraguay, San Lorenzo
Universidad Nacional de Asuncion
Pawar, Hermant
United States, Ann Arbor
University of Michigan, Ann Arbor
Reed, David M.
United States, Ann Arbor
University of Michigan, Ann Arbor
Lichter, Paul R.
United States, Ann Arbor
University of Michigan, Ann Arbor
Moroi, Sayoko E.
United States, Ann Arbor
University of Michigan, Ann Arbor
Page, Michael
United States, Ann Arbor
University of Michigan, Ann Arbor
Eadie, James
United States, Ann Arbor
University of Michigan, Ann Arbor
Azocar, Veronica
Chile, Santiago
Univcrsidad Catölica de Chile
Maul, Eugenio
Chile, Santiago
Univcrsidad Catölica de Chile
Ntim-Amponsah, C. T.
Ghana, Accra
University of Ghana
Bromley, William C.
United States, Bar Harbor
Center for Human Genetics, Bar Harbor
Obeng-Nyarkoh, Ebenezer
United States, Bar Harbor
Center for Human Genetics, Bar Harbor
Johnson, A. Tim
United States, Iowa City
University of Iowa
Kijek, Theresa Guckian
United States, Ann Arbor
University of Michigan, Ann Arbor
Downs, Catherine A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Johnson, Jenae M.
United States, Ann Arbor
University of Michigan, Ann Arbor
Perez-Grossmann, Rodolfo A.
Peru, Lima
Universidad de San Martín de Porres
Guevara-Fujita, Maria Luisa
Peru, Lima
Universidad de San Martín de Porres
Fujita, Ricardo M.
Peru, Lima
Universidad de San Martín de Porres
Wallace, Margaret Peggy
United States, Gainesville
University of Florida
Richards, Julia E.
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Ann Arbor
University of Michigan W.k. Kellogg Eye Center
Statistics
Citations: 21
Authors: 21
Affiliations: 9
Identifiers
e-ISSN:
10900535
Research Areas
Cancer
Genetics And Genomics
Health System And Policy