2024
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease
Tevar A, Aroca-Aguilar J, Bonet-Fernández J, Atienzar-Aroca R, Campos-Mollo E, Méndez-Hernández C, Morales-Fernández L, Palmer I, Coca-Prados M, Martinez-de-la-Casa J, Garcia-Feijoo J, Escribano J. The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease. International Journal Of Molecular Sciences 2024, 25: 5757. PMID: 38891949, PMCID: PMC11171635, DOI: 10.3390/ijms25115757.Peer-Reviewed Original ResearchChildhood glaucomaGene variantsIncreased burden of rare variantsChildhood glaucoma patientsEarly-onset glaucomaIrreversible optic neuropathyAnterior eye chamberRare variantsPartial loss-of-function effectsLoss-of-function effectProportion of rare variantsBurden of rare variantsComplex genetic inheritanceGlaucoma patientsGlaucoma typePrimary glaucomaOptic neuropathyMutational burdenAnterior segmentEndoplasmic reticulum stressEye chamberT cellsHEK 293T cellsGlaucomaNext-generation sequencing
2014
Lysyl Oxidase‐Like 1 gene haplotypes and their association with pseudoexfoliation glaucoma in the Spanish population
ALVAREZ L, GARCIA M, GONZALEZ‐IGLESIAS H, ESCRIBANO J, RODRIGUEZ‐CALVO P, FERNANDEZ‐VEGA L, COCA‐PRADOS M. Lysyl Oxidase‐Like 1 gene haplotypes and their association with pseudoexfoliation glaucoma in the Spanish population. Acta Ophthalmologica 2014, 92: 0-0. DOI: 10.1111/j.1755-3768.2014.t075.x.Peer-Reviewed Original ResearchPseudoexfoliation glaucomaHaploView 4.0 softwareLOXL1 geneCase-control studyUnrelated healthy controlsSpanish populationGenetic variantsXFG patientsCase-control association studyHealthy controlsSpanish patientsAllelic frequency analysisPotential associationCommon genetic variantsLOXL1 SNPsPatientsRisk allelesXFGFragment length polymorphism analysisRestriction fragment length polymorphism analysisNext-generation sequencingGlaucomaGene haplotypesAssociationVariant frequency