MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Autor: Canut, Maria Isabel, Villa, O., Kudsieh, B., Mattlin, H., Banchs, I., González, J.R., Armengol, Lluís, Casaroli-Marano, Ricardo Pedro, Universitat Autònoma de Barcelona
Rok vydání: 2021
Předmět:
0301 basic medicine
Male
Intraocular pressure
genetic structures
Ocular hypertension
Glaucoma
Diseases
030105 genetics & heredity
Bioinformatics
chemistry.chemical_compound
Prospective Studies
Latanoprost
education.field_of_study
Multidisciplinary
Cross-Over Studies
Molecular medicine
Middle Aged
Prostaglandin analog
Timolol
Medicine
Biomarker (medicine)
Female
Co-Repressor Proteins
Glaucoma
Open-Angle
Adult
Open angle glaucoma
DNA Copy Number Variations
Genotype
Science
Population
Adrenergic beta-Antagonists
Article
Pressió intraocular
03 medical and health sciences
Medical research
medicine
Genetics
Humans
education
Alleles
Aged
business.industry
Health care
medicine.disease
eye diseases
030104 developmental biology
chemistry
Genetic markers
Ocular Hypertension
sense organs
business
Biomarkers
Genome-Wide Association Study
Zdroj: Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
ISSN: 2045-2322
Popis: Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). We conducted a prospective, controlled, randomized, partial crossover study that included 151 patients of both genders, aged 18 years and older, diagnosed with and requiring pharmacological treatment for POAG or OH in one or both eyes. We sought to identify copy number variants (CNVs) associated with differences in pharmacological response, using a DNA pooling strategy of carefully phenotyped treatment responders and non-responders, treated for a minimum of 6 weeks with a beta-blocker (timolol maleate) and/or prostaglandin analog (latanoprost). Diurnal intraocular pressure reduction and comparative genome wide CNVs were analyzed. Our finding that copy number alleles of an intronic portion of the MLIP gene is a predictor of pharmacological response to beta blockers and prostaglandin analogs could be used as a biomarker to guide first-tier POAG and OH treatment. Our finding improves understanding of the genetic factors modulating pharmacological response in POAG and OH, and represents an important contribution to the establishment of a personalized approach to the treatment of glaucoma.
Databáze: OpenAIRE
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