Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration
| Autor: | Ven, J.P.H. van de, Smailhodzic, D., Boon, C.J.F., Fauser, S., Groenewoud, J.M.M., Chong, N.V., Hoyng, C.B., Klevering, B.J., Hollander, A.I. den |
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| Rok vydání: | 2012 |
| Předmět: |
genetic structures
Evaluation of complex medical interventions [NCEBP 2] Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2] sense organs Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] eye diseases |
| Zdroj: | Molecular Vision, 18, pp. 2271-8 Molecular Vision, 18, 2271-8 |
| ISSN: | 1090-0535 |
| Popis: | Contains fulltext : 109959.pdf (Publisher’s version ) (Open Access) PURPOSE: To assess the association of gender, cigarette smoking, body-mass index, and nine genetic risk variants with cuticular drusen (CD), a well recognized subtype of age-related macular degeneration (AMD). METHODS: A total of 757 patients with AMD, including 217 patients with CD, and 553 control individuals were interviewed with a questionnaire and underwent an ophthalmic examination. Venous blood samples were obtained for genomic DNA extraction, and genotyping was performed of single nucleotide polymorphisms previously associated with AMD. Odds ratios were calculated for patients with CD, using unaffected control individuals as a reference. Furthermore, odds ratios in patients with CD were compared to those in patients with "non-CD" AMD. RESULTS: The CD subtype of AMD was significantly associated with current smoking as well as variants in the complement factor H (CFH), age-related maculopathy susceptibility 2 (ARMS2), complement factor B/complement component 2 (CFB/C2), complement component 3 (C3), and apolipoprotein E (APOE) genes. In patients with CD, the association with the CFH Y402H risk allele was significantly higher (p=0.022), whereas the association with current smoking was significantly lower (p |
| Databáze: | OpenAIRE |
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