Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma

DSpace/Manakin Repository

Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma

Citable link to this page

 

 
Title: Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma
Author: Liu, Yutao; Challa, Pratap; Herndon, Leon W.; Girkin, Christopher A.; Allingham, R. Rand; Hauser, Michael A.; Liu, Wenjing; Wiggs, Janey Lee

Note: Order does not necessarily reflect citation order of authors.

Citation: Liu, Wenjing, Yutao Liu, Pratap Challa, Leon W. Herndon, Janey L. Wiggs, Christopher A. Girkin, R. Rand Allingham, and Michael A. Hauser. 2012. Low prevalence of myocilin mutations in an african american population with primary open-angle glaucoma. Molecular Vision 18:2241-2246.
Full Text & Related Files:
Abstract: Purpose Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population. Methods: We recruited 529 African American subjects with POAG and 270 African American control subjects in this study. A complete eye examination and blood collection was performed in all study subjects. Genomic DNA was extracted. The entire coding sequence of MYOC was amplified and sequenced using the Sanger method. Identified MYOC variants were compared with previously reported MYOC mutations. Results: We identified a total of 29 MYOC variants including six potential MYOC mutations. Two mutations (Thr209Asn and Leu215Gln) are novel and are found only in cases and no controls. We also identified four previously reported MYOC mutations in cases and no controls (Tyr453MetfsX11, Gln368X, Thr377Met, and Ser393Arg). The overall frequency of glaucoma-causing MYOC mutations in our African American population with POAG was 1.4%. Conclusions: We identified two novel probable glaucoma-causing MYOC mutations (Thr209Asn and Leu215Gln). This study indicates that, despite the high prevalence of POAG, MYOC mutations are rare in the African American population.
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429360/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10480088
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters