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|Title:||Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility|
St. Germain, E.
|Source:||Tran-Viet, K.-N.,St. Germain, E.,Soler, V.,Powell, C.,Lim, S.-H.,Klemm, T.,Saw, S.M.,Young, T.L. (2012-04-12). Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. Molecular Vision 18 : 937-944. ScholarBank@NUS Repository.|
|Abstract:||Purpose: Myopia, or nearsightedness, is highly prevalent in Asian countries and is considered a serious public health issue globally. High-grade myopia can predispose individuals to myopic maculopathy, premature cataracts, retinal detachment, and glaucoma. A recent study implicated zinc finger protein 644 isoform 1 (ZNF644) variants with nonsyndromic high-grade myopia in a Chinese-Asian population. Herein we focused on investigating the role for ZNF644 variants in high-grade myopia in a United States (US) cohort. Methods: DNA from a case cohort of 131 subject participants diagnosed with high-grade myopia was screened for ZNF644 variants. Spherical refractive error of -≤-6.00 diopters (D) in at least one eye was defined as affected. All coding, intron/exon boundaries were screened using Sanger sequencing. Single nucleotide allele frequencies were determined by screening 672 ethnically matched controls. Results: Sequencing analysis did not detect previously reported mutations. However, our analysis identified 2 novel single nucleotide variants (c.725C>T, c.821A>T) in 2 high-grade myopia individuals- one Caucasian and one African American, respectively. These variants were not found in normal controls. A rare variant - dbsSNP132 (rs12117237→c.2119A>G) - with a minor allele frequency of 0.2% was present in 6 additional cases, but was also present in 5 controls. Conclusions: Our study has identified two novel variants in ZNF644 associated with high-grade myopia in a US cohort. Our results suggest that ZNF644 may play a role in myopia development. © 2012 Molecular Vision.|
|Source Title:||Molecular Vision|
|Appears in Collections:||Staff Publications|
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