دورية أكاديمية
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
| العنوان: | Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. |
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| المؤلفون: | Hawthorne F; Duke Center for Human Genetics, Duke University, Durham, NC 27710, USA., 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 |
| المصدر: | Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2013 Mar 21; Vol. 54 (3), pp. 2076-86. Date of Electronic Publication: 2013 Mar 21. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo) Original Publication: St. Louis, Mosby. |
| مواضيع طبية MeSH: | Genetic Linkage*, Adaptor Proteins, Signal Transducing/*genetics , Carrier Proteins/*genetics , Membrane Proteins/*genetics , Myopia/*genetics , Receptor-Like Protein Tyrosine Phosphatases, Class 7/*genetics, Aged ; Aged, 80 and over ; Chromosome Mapping ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Middle Aged ; Polymorphism, Single Nucleotide |
| مستخلص: | 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 adult ocular tissue (confirmed by RT-qPCR). Conclusions: In an independent high-grade myopia cohort, an intronic SNP in UHRF1BP1L, rs4764971, was validated for quantitative association, and SNPs within PTPRR (quantitative) and PPFIA2 (qualitative and quantitative) approached significance. Three genes identified by our association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied. |
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| معلومات مُعتمدة: | United Kingdom WT_ Wellcome Trust; R01 EY018246 United States EY NEI NIH HHS; R01-EY018246 United States EY NEI NIH HHS; R01 EY014685 United States EY NEI NIH HHS; SRF/01/010 United Kingdom DH_ Department of Health; R01-EY014685 United States EY NEI NIH HHS; K08 EY022670 United States EY NEI NIH HHS |
| المشرفين على المادة: | 0 (Adaptor Proteins, Signal Transducing) 0 (Carrier Proteins) 0 (Genetic Markers) 0 (Intracellular Signaling Peptides and Proteins) 0 (Membrane Proteins) 0 (PPFIA2 protein, human) 0 (UHRF1BP1L protein, human) EC 3.1.3.48 (PTPRR protein, human) EC 3.1.3.48 (Receptor-Like Protein Tyrosine Phosphatases, Class 7) |
| SCR Disease Name: | Myopia 3 |
| تواريخ الأحداث: | Date Created: 20130221 Date Completed: 20130521 Latest Revision: 20211021 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC3621505 |
| DOI: | 10.1167/iovs.12-11102 |
| PMID: | 23422819 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-5783 |
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| DOI: | 10.1167/iovs.12-11102 |