دورية أكاديمية
Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population.
| العنوان: | Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population. |
|---|---|
| المؤلفون: | Chiras D; Department of Ophthalmology, University Hospital of Ioannina, Ioannina, Greece., Tzika K, Kokotas H, Oliveira SC, Grigoriadou M, Kastania A, Dima K, Stefaniotou M, Aspiotis M, Petersen MB, Kroupis C, Kitsos G |
| المصدر: | Molecular vision [Mol Vis] 2013 May 06; Vol. 19, pp. 1006-16. Date of Electronic Publication: 2013 May 06 (Print Publication: 2013). |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Atlanta Ga : Molecular Vision, 1995- |
| مواضيع طبية MeSH: | Amino Acid Oxidoreductases/*genetics , Apolipoproteins E/*genetics , Exfoliation Syndrome/*genetics , Genotyping Techniques/*methods , Glaucoma, Open-Angle/*genetics , Methylenetetrahydrofolate Reductase (NADPH2)/*genetics , Polymorphism, Single Nucleotide/*genetics, Aged ; Amino Acid Oxidoreductases/chemistry ; Amino Acid Sequence ; Case-Control Studies ; Exfoliation Syndrome/complications ; Female ; Glaucoma, Open-Angle/complications ; Greece ; Humans ; Male ; Molecular Sequence Data ; Nucleic Acid Denaturation ; Reproducibility of Results |
| مستخلص: | Purpose: In the Greek population of Epirus, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occur at a high prevalence. In this study, we validate a novel lysyl oxidase-like 1 (LOXL1) genotyping method, investigate the previously reported association of LOXL1 with XFS/XFG, and evaluate apolipoprotein E (APOE) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms as genetic risk factors for both conditions in our population. Methods: Blood samples were collected from 82 patients with XFG, 69 patients with XFS, 52 patients with primary open-angle glaucoma (POAG), and 107 controls. APOE and MTHFR 677C>T genotyping was performed from extracted genomic DNA with established methods. A novel methodology of real-time PCR and melting curve analysis was developed and validated to accurately genotype the LOXL1 G153D and R141L polymorphisms by using two different fluorescent channels of the LightCycler instrument (Roche) examining each SNP separately. Results: No significant differences were observed for the APOE and MTHFR polymorphisms between the patients with XFS, the patients with XFG, and the control subjects. The APOE ε2 allele appears to be associated with elevated risk of POAG in our population. Our novel LOXL1 genotyping method was easy to perform, fast, and accurate. A statistically significant association was found for the LOXL1 gene with XFS/XFG in this Greek population. The association of XFS and XFG with G153D appeared to be less powerful in this population (XFS: odds ratio [OR]=2.162, p=0.039, XFG: OR=2.794, p=0.002) compared to other populations, and for R141L, the association was proven only with XFG (OR=3.592, p<0.001). Neither of the two LOXL1 SNPs was significantly associated with POAG. Conclusions: We confirmed the association between LOXL1 and XFS/XFG, but the APOE and MTHFR polymorphisms are not significant risk factors for the development of XFS/XFG in our population of patients from Epirus (Greece). |
| References: | J Med Genet. 2003 Aug;40(8):619-25. (PMID: 12920077) Invest Ophthalmol Vis Sci. 2003 Mar;44(3):1117-25. (PMID: 12601038) Mol Vis. 2010 Apr 21;16:705-12. (PMID: 20431720) Ophthalmologe. 2005 Nov;102(11):1064-8. (PMID: 15871021) Acta Ophthalmol Scand. 1999 Aug;77(4):371-5. (PMID: 10463402) Lancet. 1991 May 11;337(8750):1158-9. (PMID: 1674030) Science. 2007 Sep 7;317(5843):1397-400. (PMID: 17690259) Nat Genet. 1995 May;10(1):111-3. (PMID: 7647779) Am J Ophthalmol. 2005 Apr;139(4):721-3. (PMID: 15808177) Br J Ophthalmol. 2004 Apr;88(4):581-2. (PMID: 15031182) Mol Vis. 2010 Nov 02;16:2236-41. (PMID: 21139690) Am J Hematol. 1999 Aug;61(4):265-7. (PMID: 10440914) Am J Pathol. 2008 Dec;173(6):1724-35. (PMID: 18974306) Mol Vis. 2010 Feb 06;16:167-77. (PMID: 20142848) Mol Vis. 2011;17:1734-44. (PMID: 21738402) Acta Ophthalmol Scand. 1997 Dec;75(6):726-9. (PMID: 9527341) Am J Ophthalmol. 2004 Jul;138(1):162-4. (PMID: 15234308) Annu Rev Med. 2009;60:39-54. (PMID: 18729731) Ophthalmic Genet. 2012 Mar;33(1):12-7. (PMID: 21970694) Mol Vis. 2006 Apr 17;12:356-9. (PMID: 16636653) J Glaucoma. 1994 Summer;3(2):176-7. (PMID: 19920577) Am J Ophthalmol. 2006 May;141(5):921-937. (PMID: 16678509) Nucleic Acids Res. 1988 Feb 11;16(3):1215. (PMID: 3344216) Acta Ophthalmol (Copenh). 1990 Jun;68(3):307-9. (PMID: 2392907) Ophthalmic Genet. 2012 Sep;33(3):130-3. (PMID: 21510775) J Glaucoma. 2010 Oct-Nov;19(8):561-5. (PMID: 20543710) Acta Ophthalmol. 2011 Feb;89(1):e64-6. (PMID: 21272281) Mol Ecol. 2006 Jul;15(8):2031-45. (PMID: 16780422) Lancet Neurol. 2011 Mar;10(3):241-52. (PMID: 21349439) Mol Vis. 2008 Jan 29;14:146-9. (PMID: 18334928) Mol Vis. 2013;19:448-53. (PMID: 23441117) Mol Vis. 2009;15:912-9. (PMID: 19421411) Mol Vis. 2012;18:1040-4. (PMID: 22605916) Genet Test Mol Biomarkers. 2010 Dec;14(6):839-46. (PMID: 20973705) Mol Vis. 2013;19:114-20. (PMID: 23378724) Mol Vis. 2011;17:2808-17. (PMID: 22128228) Behav Res Methods. 2007 May;39(2):175-91. (PMID: 17695343) Bioinformatics. 2006 Aug 1;22(15):1928-9. (PMID: 16720584) Ophthalmic Genet. 2001 Sep;22(3):171-85. (PMID: 11559859) Lancet. 1996 Mar 30;347(9005):862-5. (PMID: 8622392) Lancet. 2001 Feb 3;357(9253):359-60. (PMID: 11211000) Antioxid Redox Signal. 2007 Nov;9(11):1883-98. (PMID: 17760510) Mol Vis. 2012;18:2976-81. (PMID: 23288989) Arch Ophthalmol. 2011 Feb;129(2):206-10. (PMID: 21320968) J Glaucoma. 2007 Mar;16(2):234-9. (PMID: 17473737) Mol Vis. 2008;14:2484-91. (PMID: 19112534) Exp Eye Res. 2005 Jun;80(6):871-5. (PMID: 15939044) |
| المشرفين على المادة: | 0 (Apolipoproteins E) EC 1.4.- (Amino Acid Oxidoreductases) EC 1.4.3.- (LOXL1 protein, human) EC 1.5.1.20 (MTHFR protein, human) EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)) |
| تواريخ الأحداث: | Date Created: 20130521 Date Completed: 20130924 Latest Revision: 20220408 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC3654845 |
| PMID: | 23687437 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1090-0535 |
|---|