title: Hypomethylation of the IL17RC promoter associates with age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly population worldwide. Although recent studies have demonstrated strong genetic associations between AMD and SNPs in a number of genes, other modes of regulation are also likely to play a role in the etiology of this disease. We identified a significantly decreased level of methylation on the IL17RC promoter in AMD patients. Furthermore, we showed that hypomethylation of the IL17RC promoter in AMD patients led to an elevated expression of its protein and messenger RNA in peripheral blood as well as in the affected retina and choroid, suggesting that the DNA methylation pattern and expression of IL17RC may potentially serve as a biomarker for the diagnosis of AMD and likely plays a role in disease pathogenesis.
authors.affiliation: Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. lai.wei@nih.gov
authors.forename: Lai
authors.initials: L
authors.lastname: Wei
authors.forename: Baoying
authors.initials: B
authors.lastname: Liu
authors.forename: Jingsheng
authors.initials: J
authors.lastname: Tuo
authors.forename: Defen
authors.initials: D
authors.lastname: Shen
authors.forename: Ping
authors.initials: P
authors.lastname: Chen
authors.forename: Zhiyu
authors.initials: Z
authors.lastname: Li
authors.forename: Xunxian
authors.initials: X
authors.lastname: Liu
authors.forename: Jia
authors.initials: J
authors.lastname: Ni
authors.forename: Pradeep
authors.initials: P
authors.lastname: Dagur
authors.forename: H Nida
authors.initials: HN
authors.lastname: Sen
authors.forename: Shayma
authors.initials: S
authors.lastname: Jawad
authors.forename: Diamond
authors.initials: D
authors.lastname: Ling
authors.forename: Stanley
authors.initials: S
authors.lastname: Park
authors.forename: Sagarika
authors.initials: S
authors.lastname: Chakrabarty
authors.forename: Catherine
authors.initials: C
authors.lastname: Meyerle
authors.forename: Elvira
authors.initials: E
authors.lastname: Agron
authors.forename: Frederick L
authors.initials: FL
authors.lastname: Ferris
authors.forename: Emily Y
authors.initials: EY
authors.lastname: Chew
authors.forename: J Philip
authors.initials: JP
authors.lastname: McCoy
authors.forename: Emily
authors.initials: E
authors.lastname: Blum
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Francis
authors.forename: Michael L
authors.initials: ML
authors.lastname: Klein
authors.forename: Robyn H
authors.initials: RH
authors.lastname: Guymer
authors.forename: Paul N
authors.initials: PN
authors.lastname: Baird
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
authors.forename: Robert B
authors.initials: RB
authors.lastname: Nussenblatt
mesh_terms: D002460:Cell Line; D018899:CpG Islands; D019175:DNA Methylation; D005123:Eye / Q000378:metabolism; D005786:Gene Expression Regulation / Q000187:drug effects; D006801:Humans; D020381:Interleukin-17 / Q000494:pharmacology; D008268:Macular Degeneration / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009000:Monocytes / Q000187:drug effects / Q000276:immunology / Q000378:metabolism; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018123:Receptors, Interleukin / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D014427:Twins
chemical_list: C448419:IL17RC protein, human; D020381:Interleukin-17; D018123:Receptors, Interleukin