臨床眼科66巻1号

2012年01月発行

連載 今月の話題

加齢黄斑変性と遺伝子―個別化医療をめざして

著者： 山城健児¹

所属機関： ¹京都大学大学院医学研究科感覚運動系外科学講座眼科学

ページ範囲：P.5 - P.8

　加齢黄斑変性の発症には環境因子と遺伝的因子の両方が関与している。最近になって，加齢黄斑変性の発症に影響を与える遺伝子が明らかとなり，さらに進行・予後および治療への反応性にも遺伝子的要素が関係していることもわかってきた。遺伝子診断によって各患者に最適な治療方針を決定する個別化医療が実現できるかもしれない。

参考文献

1）Klein RJ, Zeiss C, Chew EY et al：Complement factor H polymorphism in age-related macular degeneration. Science　308：385-389, 2005

2）Haines JL, Hauser MA, Schmidt S et al：Complement factor H variant increases the risk of age-related macular degeneration. Science　308：419-421, 2005

3）Edwards AO, Ritter R 3rd, Abel KJ et al：Complement factor H polymorphism and age-related macular degeneration. Science　308：421-424, 2005

4）Hageman GS, Anderson DH, Johnson LV et al：A common haplotype in the complement regulatory gene factor H（HF1/CFH）predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA　102：7227-7232, 2005

5）Rivera A, Fisher SA, Fritsche LG et al：Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet　14：3227-3236, 2005

6）Hayashi H, Yamashiro K, Gotoh N et al：CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci　51：5914-5919, 2010

7）Yang Z, Camp NJ, Sun H et al：A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science　314：992-993, 2006

8）Dewan A, Liu M, Hartman S et al：HTRA1 promoter polymorphism in wet age-related macular degeneration. Science　314：989-992, 2006

9）Seddon JM, Francis PJ, George S et al：Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA　297：1793-1800, 2007

10）Farwick A, Wellmann J, Stoll M et al：Susceptibility genes and progression in age-related maculopathy：A study of single eyes. The prospective Muenster Ageing and Retina Study（MARS）. Invest Ophthalmol Vis Sci　51：731-736, 2009

11）Klein ML, Ferris FL 3rd, Francis PJ et al：Progression of geographic atrophy and genotype in age-related macular degeneration. Ophthalmology　117：1554-1559, 2010

12）Tsuchihashi T, Mori K, Horie-Inoue K et al：Complement factor H and high-temperature requirement A-1 genotypes and treatment response of age-related macular degeneration. Ophthalmology　118：93-100, 2011

13）Sakurada Y, Kubota T, Imasawa M et al：Association of LOC387715 A69S genotype with visual prognosis after photodynamic therapy for polypoidal choroidal vasculopathy. Retina　30：1616-1621, 2010

14）Bessho H, Honda S, Kondo N et al：The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis　17：977-982, 2011

15）Feng X, Xiao J, Longville B et al：Complement factor H Y402H and C-reactive protein polymorphism and photodynamic therapy response in age-related macular degeneration. Ophthalmology　116：1908-1912, 2009

16）Immonen I, Seitsonen S, Tommila P et al：Vascular endothelial growth factor gene variation and the response to photodynamic therapy in age-related macular degeneration. Ophthalmology　117：103-108, 2010

17）Nakata I, Yamashiro K, Yamada R et al：Genetic variants in pigment epithelium-derived factor influence response of polypoidal choroidal vasculopathy to photodynamic therapy. Ophthalmology　118：1408-1415, 2011