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
2020
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
Bonet-Fernández J, Aroca-Aguilar J, Corton M, Ramírez A, Alexandre-Moreno S, García-Antón M, Salazar J, Ferre-Fernández J, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández C, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa J, García-Feijoo J, Escribano J. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Human Genetics 2020, 139: 1209-1231. PMID: 32274568, DOI: 10.1007/s00439-020-02164-0.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlpha-MacroglobulinsAnimalsAnterior ChamberCase-Control StudiesComplement C3CRISPR-Cas SystemsEmbryo, NonmammalianExtracellular MatrixEye AbnormalitiesFemaleGene EditingGene ExpressionGenes, RecessiveGlaucomaHigh-Throughput Nucleotide SequencingHumansLoss of Function MutationMaleMiddle AgedPedigreeTrabecular MeshworkTrabeculectomyTrypsin Inhibitor, Kazal PancreaticZebrafishConceptsZebrafish embryosAnterior segment dysgenesisExtracellular matrixPrimary congenital glaucomaNext-generation DNA sequencingGross developmental abnormalitiesFunction pathogenic mechanismQuantitative reverse transcription PCRAbnormal extracellular matrixCongenital glaucomaCRISPR/Mesenchyme-like cellsTrabecular meshwork cellsReverse transcription-PCRUnknown functionExtracellular matrix disorganizationDNA sequencingGenesGenetic alterationsEmbryosMeshwork cellsDevelopmental abnormalitiesTranscription-PCRAnterior chamber angleDisease Role
2019
The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE‐E2 allele in the wet form in a Northern Spanish population
Fernández‐Vega B, García M, Olivares L, Álvarez L, González‐Fernández A, Artime E, Cueto A, Cobo T, Coca‐Prados M, Vega J, González‐Iglesias H. The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE‐E2 allele in the wet form in a Northern Spanish population. Acta Ophthalmologica 2019, 98: e282-e291. PMID: 31654486, DOI: 10.1111/aos.14280.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationWet age-related macular degenerationNorthern Spanish patientsLipid metabolism genesSpanish patientsSingle nucleotide polymorphismsProtective roleAMD casesNorthern Spanish populationApoE E2 alleleDry AMD casesCase-control studyAPOE ε2 alleleSpanish populationMetabolism gene polymorphismsABCA1 rs1883025Peripheral bloodHealthy controlsMacular degenerationAdditional association studiesGene polymorphismsLPL rs12678919APOE genePatientsCarrier genotype
2017
Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration
García M, Álvarez L, Fernández Á, González-Iglesias H, Escribano J, Fernández-Vega B, Villota E, Cueto L, Fernández-Vega Á, Coca-Prados M. Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. Ophthalmic Genetics 2017, 38: 451-458. PMID: 28635422, DOI: 10.1080/13816810.2017.1288825.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCase-Control StudiesFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeGenotyping TechniquesGeographic AtrophyHumansMaleMetallothioneinMiddle AgedPolymerase Chain ReactionPolymorphism, Single NucleotideSpainWet Macular DegenerationConceptsAge-related macular degenerationDry age-related macular degenerationSingle nucleotide polymorphismsMT genesMacular degenerationNorthern Spanish populationHaploView 4.0 softwareNorthern Spanish patientsCase-control studySpanish populationMetallothionein genePeripheral bloodHealthy controlsAMD subjectsAssociation studiesSpanish patientsGenesPotential associationSignificant associationNucleotide polymorphismsGenotype AGControl cases
2015
CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration
García M, Álvarez L, Nogacka AM, González-Iglesias H, Escribano J, Fernández-Vega B, Fernández-Vega Á, Fernández-Vega L, Coca-Prados M. CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration. Acta Ophthalmologica 2015, 93: e658-e666. PMID: 26152901, DOI: 10.1111/aos.12790.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationMacular degenerationSingle nucleotide polymorphismsRisk of AMDNorthern Spanish populationStrongest genetic risk factorHaploView 4.0 softwareNorthern Spanish patientsDifferent clinical formsCase-control studyComplement factor H (CFH) geneSpanish populationGenetic risk factorsRestriction fragment length polymorphismFactor H genePeripheral bloodClinical formsHealthy controlsRisk factorsSpanish patientsAllelic frequency analysisCFH polymorphismsCFH geneHaplotype CGGSignificant association
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
2006
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2006, 12: 748-55. PMID: 16862072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmino Acid SubstitutionAryl Hydrocarbon HydroxylasesCase-Control StudiesConserved SequenceCytochrome P-450 CYP1B1Cytochrome P-450 Enzyme SystemFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeGlaucoma, Open-AngleHeterozygoteHumansMaleMiddle AgedMutationMutation, MissenseOcular HypertensionPhenotypeSpainConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaCYP1B1 gene mutationsGlaucoma patientsSpanish patientsDevelopment of POAGGene mutationsUnrelated Spanish subjectsOHT subjectsPCR-DNA sequencingPOAG patientsAngle glaucomaPatientsCYP1B1 mutationsGlaucomaSpanish populationSpanish subjectsMissense mutationsDifferent mutationsSignificant changesAmino acid substitutionsSubjectsMutationsAcid substitutions