Article
Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration.
Investigative ophthalmology & visual science - 9 Oct 2012
Fourgeux Cynthia, Dugas Brice, Richard Florence, Björkhem Ingemar, Acar Niyazi, Bron Alain M, Korobelnik Jean-François, Leveziel Nicolas, Zerbib Jennyfer, Puche Nathalie, Creuzot-Garcher Catherine P, Souied Eric, Bretillon Lionel
Abstract excerpt
PURPOSE: We investigated the association of single nucleotide polymorphism (SNP) in the cholesterol-24S-hydroxylase (CYP46A1) gene, according to CFH and LOC387715 SNPs, with age-related macular degeneration (AMD). METHODS: We enrolled 1388 AMD patients with neovascular AMD or geographic atrophy and 487 unrelated control subjects. SNPs were genotyped in the CYP46A1 (rs754203), LOC387715 (rs10490924), and CFH...
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