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
2016
Metallothionein polymorphisms in a Northern Spanish population with Age‐Related Macular Degeneration (AMD)
Garcia M, Álvarez L, Fernandez Á, Gonzalez‐Iglesias H, Escribano J, Fernandez‐Vega B, Fernandez‐Vega Á, Villota E, Fernandez‐Vega L, Coca‐Prados M. Metallothionein polymorphisms in a Northern Spanish population with Age‐Related Macular Degeneration (AMD). Acta Ophthalmologica 2016, 94 DOI: 10.1111/j.1755-3768.2016.0531.Peer-Reviewed Original ResearchAge-related macular degenerationSingle nucleotide polymorphismsMacular degenerationSignificant associationNorthern Spanish populationDry AMD casesHaploView 4.0 softwareNorthern Spanish patientsCase-control studySpanish populationUnique significant associationsPeripheral bloodHealthy controlsAMD subjectsMT2A geneSpanish patientsAllelic frequency analysisAMD casesConferring protectionPotential associationAllele GRs28366003Potential roleSignificant differencesMT genes
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
2007
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
López-Martínez F, López-Garrido M, Sánchez-Sánchez F, Campos-Mollo E, Coca-Prados M, Escribano J. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2007, 13: 862-72. PMID: 17615537, PMCID: PMC2770203.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAmino Acid SequenceCell Cycle ProteinsCell LineCytoskeletal ProteinsExonsEye ProteinsFemaleGene FrequencyGenome, HumanGlaucoma, Open-AngleGlycoproteinsHaplotypesHumansLinkage DisequilibriumMaleMembrane Transport ProteinsMiddle AgedMolecular Sequence DataMutationOcular HypertensionOpen Reading FramesPhenotypePolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSpainTranscription Factor TFIIIAWhite PeopleConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaPOAG patientsSpanish patientsSequence variationExons of myocilinHeterozygous disease-causing mutationsPathogenic mutationsSingle nucleotide polymorphismsPromoter regionRole of myocilinDNA sequence variationPolymorphic GT microsatelliteCommon single nucleotide polymorphismsPCR-DNA sequencingT cellsComplete coding regionPatientsUnrelated patientsMYOC geneOPTN geneGlaucomaDisease-causing mutationsGT microsatellite