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dc.contributor.authorMartinez-Velasco, Antonieta
dc.contributor.authorPerez-Ortiz, Andric C.
dc.contributor.authorAntonio-Aguirre, Bani
dc.contributor.authorMartinez-Villaseñor, Lourdes
dc.contributor.authorLira, Esmeralda
dc.contributor.authorRamírez-Sánchez, Israel
dc.contributor.authorOrtiz Bibriesca, Daniela
dc.contributor.authorEstrada, Francisco Javier
dc.contributor.otherCampus Ciudad de Méxicoes
dc.identifier.citationMartínez Velasco, A., Pérez Ortíz, A. C. ; Antonio Aguirre, B., Martinez-Villaseñor, L., Lira, E., Ramírez Sánchez, I. … y Estrada, F. J. (2020). Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches. Ophthalmic Genetics. DOI:
dc.description.abstractCFH: and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods: 122 cases and 249 controls were genotyped using Taqman probes. Experienced ophthalmologists diagnosed AMD following the American Association of Ophthalmology guidelines. We studied CFH (rs1329428, rs203687) and HTRA1 (rs11200638) SNPs thoroughly by logistic regression models (assuming different modes of inheritance) and machine learning-based methods (ML). HTRA1: rs11200638 is the most significant polymorphism associated with AMD in our studied population. In a multivariate regression model adjusted for clinically and statistically meaningful covariates, the A/G and A/A genotypes increased the odds of disease by a factor of 2.32 and 7.81, respectively (P < .05) suggesting a multiplicative effect of the polymorphic A allele. Furthermore, this observation remains statistically meaningful in the allelic, dominant, and recessive models, and ML algorithms. When stratifying by phenotype, this polymorphism was significantly associated with increased odds for geographic atrophy (GA) in a recessive mode of inheritance (12.4, p < .05). Conclusions: In sum, this work supports a strong association between HTRA1 genetic variants and AMD in Hispanics from Mexico, especially with GA. Moreover, ML was able to replicate the results of conventional biostatistics methods unbiasedly. © 2020 Taylor & Francis Group, LLC.en
dc.publisherTaylor and Francis Ltd.en
dc.relation.ispartofREPOSITORIO SCRIPTAes
dc.rightsAcceso embargadoes
dc.sourceOphthalmic Geneticsen
dc.subjectAge-related macular degenerationen
dc.subjectComplement factor Hen
dc.subjectGenetic association studyen
dc.subjectHigh-temperature requirement A serine peptidase 1en
dc.subject.classificationMEDICINA Y CIENCIAS DE LA SALUDes
dc.subject.classificationINGENIERÍA Y TECNOLOGÍAes
dc.subject.classificationCiencias de la Saludes
dc.titleAssessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approachesen
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