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
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