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
2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Megevand GS, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Fernández-Vega Cueto L, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature Genetics 2017, 49: 993-1004. PMID: 28553957, PMCID: PMC6685441, DOI: 10.1038/ng.3875.Peer-Reviewed Original ResearchMeSH KeywordsAged, 80 and overAllelesAmino Acid OxidoreductasesAmino Acid SubstitutionAsian PeopleCalcium ChannelsCell AdhesionExfoliation SyndromeExtracellular MatrixEyeFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHumansMaleMolecular ChaperonesMutation, MissensePoint MutationRNA, MessengerSpheroids, CellularConceptsGlobal genome-wide association studyAssociation studiesSusceptibility lociGenome-wide association studiesProtective rare variantsDisease-associated lociNew susceptibility lociFine-mapping analysisGenetic association studiesRare protective variantsLociProtective variantsRare variantsLOXL1VariantsWiggJapanese population
2015
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients
Álvarez L, García M, González-Iglesias H, Escribano J, Rodríguez-Calvo PP, Fernández-Vega L, Coca-Prados M. LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients. BMC Medical Genomics 2015, 16: 72. PMID: 26319397, PMCID: PMC4593192, DOI: 10.1186/s12881-015-0221-y.Peer-Reviewed Original Research
2014
The Blood-Aqueous Barrier in Health and Disease
Coca-Prados M. The Blood-Aqueous Barrier in Health and Disease. Journal Of Glaucoma 2014, 23: s36-s38. PMID: 25275903, DOI: 10.1097/ijg.0000000000000107.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBiological TransportBlood-Aqueous BarrierCiliary BodyEpithelial CellsExfoliation SyndromeHumansTight JunctionsConceptsBlood-aqueous barrierTight junctionsInflammatory ocular diseasesBlood-borne moleculesInner wall endotheliumInflammatory cellsBarrier dysfunctionVascular leakagePharmacologic agentsAnterior segmentOcular diseasesSchlemm's canalIris vasculatureCiliary processesEndothelial cellsJunctional complexesGap junctionsParacellular transportPhysiological changesDiseaseEyesCanalCellsApical junctional complex
2013
Comparative proteomic study in serum of patients with primary open-angle glaucoma and pseudoexfoliation glaucoma
González-Iglesias H, Álvarez L, García M, Escribano J, Rodríguez-Calvo PP, Fernández-Vega L, Coca-Prados M. Comparative proteomic study in serum of patients with primary open-angle glaucoma and pseudoexfoliation glaucoma. Journal Of Proteomics 2013, 98: 65-78. PMID: 24355480, DOI: 10.1016/j.jprot.2013.12.006.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkersExfoliation SyndromeFemaleGlaucoma, Open-AngleHumansMaleMiddle AgedProteomeProteomicsConceptsPrimary open-angle glaucomaOpen-angle glaucomaPseudoexfoliation glaucomaGlaucoma patientsInflammatory-related processesSera of patientsForms of glaucomaLarge population studiesPanel of candidatesAge-related blindnessSerum proteinsFunctional pathway analysisClinical manifestationsDietary agentsInflammatory processGlaucoma biomarkersHealthy controlsEarly diagnosisGlaucomaPatientsMajor causeSerumPopulation studiesTwo-dimensional fluorescent difference gel electrophoresisGenetic linkage studies
2005
Selective Upregulation of the A3 Adenosine Receptor in Eyes with Pseudoexfoliation Syndrome and Glaucoma
Schlötzer-Schrehardt U, Zenkel M, Decking U, Haubs D, Kruse FE, Jünemann A, Coca-Prados M, Naumann GO. Selective Upregulation of the A3 Adenosine Receptor in Eyes with Pseudoexfoliation Syndrome and Glaucoma. Investigative Ophthalmology & Visual Science 2005, 46: 2023-2034. PMID: 15914619, DOI: 10.1167/iovs.04-0915.Peer-Reviewed Original ResearchMeSH KeywordsAdenosineAgedAged, 80 and overAnterior Eye SegmentAqueous HumorBlotting, NorthernCell Culture TechniquesChromatography, High Pressure LiquidExfoliation SyndromeGlaucoma, Angle-ClosureGlaucoma, Open-AngleHumansHypoxanthineImmunohistochemistryIn Situ HybridizationInosineReceptor, Adenosine A3Reverse Transcriptase Polymerase Chain ReactionRNA, MessengerUp-RegulationXanthineConceptsControl eyesLevels of adenosineA3 adenosine receptorAdenosine receptorsPEX eyesPseudoexfoliation syndromeIntraocular pressureAqueous humor secretionCiliary epitheliumEpithelial cellsNonpigmented epithelial cellsOxidative stressGlaucomatous control eyesAngle-closure glaucomaNormal control eyesHypoxia-induced upregulationAdenosine receptor expressionAqueous humor samplesAnterior segment tissuesAqueous humor dynamicsNonpigmented ciliary epitheliumA3 receptor mRNAEffects of hypoxiaAdenosine receptor subtypesNonpigmented ciliary epithelial cells