title: Instability in X chromosome inactivation patterns in AMD: a new risk factor?
abstract: Years ago, it was thought that a genetic component was the fundamental cause of a number retinopathy diseases including age related macular degeneration (AMD). Since then, information has emerged about novel genes that contribute to various forms of AMD and other retinopathies that have been eluding researchers for years. In the genetic sense, only the APOE 2 and 4 genes have been found to be a risk factor for sporadic AMD. But, a recent Genome wide association study (GWAS) revealed that an alteration of five SNIPs on the X chromosome in a gene named DIAPH2 may be a susceptibility gene for AMD. Furthermore, the gene DIAPH2 showed to have a polygenic pleiotropy for premature ovarian failure (POF) and AMD in a cohort of women. POF is highly associated with X chromosome skewing, an epigenetic alteration of the inactivation process of the X chromosome. These findings suggest a hypothesis that an epigenetic alteration on the inactivation centres of the X chromosome (or skewing) relates not only to aging, but might be a novel property that affects women with AMD more often than men.
authors.affiliation: Institute of Pharmaceutical Research and Development, University of Belgrade and Galenika a.d.
authors.forename: Bajic
authors.initials: B
authors.lastname: Vladan
authors.affiliation: Department of Physiology, Faculty of Pharmacy, University of Belgrade.
authors.forename: Spremo-Potparevic
authors.initials: SP
authors.lastname: Biljana
authors.affiliation: Institute for Nuclear Sciences'' Vinca'', Department of Molecular Biology and Endocrinology, Belgrade, Serbia.
authors.forename: Vesna
authors.initials: V
authors.lastname: Mandusic
authors.affiliation: Institute for Nuclear Sciences'' Vinca'', Department of Molecular Biology and Endocrinology, Belgrade, Serbia.
authors.forename: Milicevic
authors.initials: M
authors.lastname: Zorana
authors.affiliation: Department of Physiology, Faculty of Pharmacy, University of Belgrade.
authors.forename: Lada
authors.initials: L
authors.lastname: Zivkovic
keywords: AMD; DIAPH2 Gene; X Chromosome; X Chromosome Skewing