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A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK. Sivakumaran TA, et al. PLoS One. 2011;6(10):e25598. doi: 10.1371/journal.pone.0025598. Epub 2011 Oct 12. PLoS One. 2011. PMID: 22022419 Free PMC article.
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
Kopplin LJ, Igo RP Jr, Wang Y, Sivakumaran TA, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, SanGiovanni JP, Chew EY, Pauer GJ, Sturgill GM, Joshi T, Tian L, Xi Q, Henning AK, Lee KE, Klein R, Klein BE, Iyengar SK. Kopplin LJ, et al. Genes Immun. 2010 Dec;11(8):609-21. doi: 10.1038/gene.2010.39. Epub 2010 Sep 23. Genes Immun. 2010. PMID: 20861866 Free PMC article.
EPHA2 is associated with age-related cortical cataract in mice and humans.
Jun G, Guo H, Klein BE, Klein R, Wang JJ, Mitchell P, Miao H, Lee KE, Joshi T, Buck M, Chugha P, Bardenstein D, Klein AP, Bailey-Wilson JE, Gong X, Spector TD, Andrew T, Hammond CJ, Elston RC, Iyengar SK, Wang B. Jun G, et al. PLoS Genet. 2009 Jul;5(7):e1000584. doi: 10.1371/journal.pgen.1000584. Epub 2009 Jul 31. PLoS Genet. 2009. PMID: 19649315 Free PMC article.