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

Wenjing Liu, Yutao Liu, Pratap Challa, Leon W. Herndon, Janey L. Wiggs, Christopher A. Girkin, R. Rand Allingham, Michael A. Hauser

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)2241-2246
Number of pages6
JournalMolecular Vision
Volume18
StatePublished - Aug 10 2012
Externally publishedYes

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African Americans
Mutation
Population
Genes
Glaucoma
trabecular meshwork-induced glucocorticoid response protein
Primary Open Angle Glaucoma
DNA

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Liu, W., Liu, Y., Challa, P., Herndon, L. W., Wiggs, J. L., Girkin, C. A., ... Hauser, M. A. (2012). Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. Molecular Vision, 18, 2241-2246.

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

In: Molecular Vision, Vol. 18, 10.08.2012, p. 2241-2246.

Research output: Contribution to journalArticle

Liu, W, Liu, Y, Challa, P, Herndon, LW, Wiggs, JL, Girkin, CA, Rand Allingham, R & Hauser, MA 2012, 'Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma', Molecular Vision, vol. 18, pp. 2241-2246.
Liu W, Liu Y, Challa P, Herndon LW, Wiggs JL, Girkin CA et al. Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. Molecular Vision. 2012 Aug 10;18:2241-2246.
Liu, Wenjing ; Liu, Yutao ; Challa, Pratap ; Herndon, Leon W. ; Wiggs, Janey L. ; Girkin, Christopher A. ; Rand Allingham, R. ; Hauser, Michael A. / Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. In: Molecular Vision. 2012 ; Vol. 18. pp. 2241-2246.
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