Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/30977
Title: Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2
Authors: Hawthorne, F
Feng, S
Metlapally, R
Li, YJ
Tran-Viet, KN
Guggenheim, JA
Malecaze, F
Calvas, P
Rosenberg, T
Mackey, DA
Venturini, C
Hysi, PG
Hammond, CJ
Young, TL
Issue Date: 2013
Publisher: Association for Research in Vision and Ophthalmology
Source: Investigative ophthalmology and visual science, 2013, v. 54, no. 3, p. 2076-2086 How to cite?
Journal: Investigative ophthalmology and visual science 
Abstract: Purpose. Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, MYP3, has been reported on chromosome 12q21-23 by four independent linkage studies. Methods. We performed a genetic association study of the MYP3 locus in a family-based high-grade myopia cohort (n = 82) by genotyping 768 single-nucleotide polymorphisms (SNPs) within the linkage region. Qualitative testing for high-grade myopia (sphere ? -5 D affected, > -0.5 D unaffected) and quantitative testing on the average dioptric sphere were performed. Results. Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including rs3803036, a missense mutation in PTPRR (P = 9.1 ?? 10-4) and rs4764971, an intronic SNP in UHRF1BP1L (P = 6.1 ?? 10-4). Quantitative testing determined statistically significant SNPs rs4764971, also found by qualitative testing (P = 3.1 ?? 10-6); rs7134216, in the 3?? untranslated region (UTR) of DEPDC4 (P = 5.4 ?? 10-7); and rs17306116, an intronic SNP within PPFIA2 (P < 9 ?? 10-4). Independently conducted whole genome expression array analyses identified protein tyrosine phosphatase genes PTPRR and PPFIA2, which are in the same gene family, as differentially expressed in normal rapidly growing fetal relative to normal
URI: http://hdl.handle.net/10397/30977
ISSN: 0146-0404
EISSN: 1552-5783
DOI: 10.1167/iovs.12-11102
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