2021
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye
Partnership T, Li Z, Wang Z, Lee M, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams S, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe S, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim K, Meah W, Soo H, Chen X, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou E, Mikropoulos D, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur M, Husain R, Perera S, Álvarez L, García M, González-Iglesias H, Cueto A, Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasım B, Astakhov Y, Astakhov S, Akopov E, Giessl A, Mardin C, Hellerbrand C, Bailey J, Igo R, Haines J, Edward D, Heegaard S, Davila S, Tan P, Kang J, Pasquale L, Kruse F, Reis A, Carmichael T, Hauser M, Ramsay M, Mossböck G, Yildirim N, Tashiro K, Konstas A, Coca-Prados M, Foo J, Kinoshita S, Sotozono C, Kubota T, Dubina M, Ritch R, Wiggs J, Pasutto F, Schlötzer-Schrehardt U, Ho Y, Aung T, Tam W, Khor C. Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA 2021, 325: 753-764. PMID: 33620406, PMCID: PMC7903258, DOI: 10.1001/jama.2021.0507.Peer-Reviewed Original ResearchConceptsExfoliation syndromeValidation cohortDiscovery cohortAnterior chamberImpair protein functionFirst validation cohortSecond validation cohortSlit-lamp examinationCase-control studyAnterior segment structuresCauses of glaucomaCiliary body tissueSecondary outcomesPrimary outcomeLamp examinationSystemic disordersIrreversible blindnessMAIN OUTCOMEIndependent cohortExfoliation materialProtein-changing variantsSyndromeClinical implicationsCohortStudy participants
2011
WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions
Blanco-Marchite C, Sánchez-Sánchez F, López-Garrido MP, Iñigez-de-Onzoño M, López-Martínez F, López-Sánchez E, Alvarez L, Rodríguez-Calvo PP, Méndez-Hernández C, Fernández-Vega L, García-Sánchez J, Coca-Prados M, García-Feijoo J, Escribano J. WDR36 and P53 Gene Variants and Susceptibility to Primary Open-Angle Glaucoma: Analysis of Gene-Gene Interactions. Investigative Ophthalmology & Visual Science 2011, 52: 8467-8478. PMID: 21931130, PMCID: PMC3208188, DOI: 10.1167/iovs.11-7489.Peer-Reviewed Original ResearchAgedAmino Acid SequenceBase SequenceCase-Control StudiesChromatography, High Pressure LiquidDNA Mutational AnalysisEpistasis, GeneticEye ProteinsFemaleGenetic Predisposition to DiseaseGenetic VariationGenotypeGlaucoma, Open-AngleHumansIntraocular PressureMaleMiddle AgedMolecular Sequence DataOcular HypertensionPolymerase Chain ReactionPolymorphism, Single NucleotideRegulatory Sequences, Nucleic AcidRisk FactorsSequence Analysis, DNATumor Suppressor Protein p53