Estrada Mena, Francisco Javier
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Estrada Mena, Francisco Javier
Official Name
Estrada Mena, Francisco Javier
Alternative Name
festrada
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Scopus Author ID
57192982524
Researcher ID
AAI-2437-2020

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Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

2018 , Pérez Ortiz, Andric Christopher , Luna-Angulo, Alexandra , Zenteno, Juan Carlos , Rendon, Álvaro , Cortes-Ballinas, Liliana Guadalupe , Jiménez-Collado, David , Antonio-Aguirre, Bani , Peralta-Ildefonso, Martha Janneth , Ramírez, Israel , Jacob-Kuttothara, Stefany , Estrada Mena, Francisco Javier

CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes-for instance, in the dystrophin-associated protein complex-might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4⁻5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06⁻3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03⁻3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02⁻0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities.

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Novel genome-wide associations for age-related macular degeneration in the sarcoglycan-sarcospan protein complex

2020 , Asaf Calderon, Andrea Michelle , Dewan, Andrew , Ramírez, Israel , Zepeda-Palacio, Claudia , Palacio, Claudia , Antonio-Aguirre, Bani , Mendoza Velásquez, Cristina , Camacho-Ordóñez, Azyadeh , Estrada Mena, Francisco Javier , Pérez Ortiz, Andric Christopher

Purpose : Since the advent of genomic approaches, many chromosomal regions and polymorphisms have been associated with age-related macular degeneration (AMD). However, most of the disease variability might not be still captured by current researched genetic markers due to power issues. We have evidence that at least one component of the sarcoglycan-sarcospan protein complex (Sg-Sspn) gene is associated with increased odds of geographic atrophy (GA) AMD. Moreover, the retina of the knocked-out mouse model for the Sg-Sspn phenotypically resembles GA. Here, we aimed to explore the genome-wide association of the Sg-Sspn complex gene regions with AMD.

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Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches

2020 , Martínez Velasco, Antonieta Teodora , Pérez Ortiz, Andric Christopher , Antonio-Aguirre, Bani , Martinez-Villaseñor, Lourdes , Palacio-Pastrana, Claudia , Lira, Esmeralda , Zenteno, Juan Carlos , Ramírez-Sánchez, Israel , Zepeda-Palacio, Claudia , Mendoza Vera, Cristina Azucena , Camacho-Ordóñez, Azyadeh , Ortiz Bibriesca, Daniela , Estrada Mena, Francisco Javier

CFH: 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.

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Influence of GST polymorphisms in the age of onset of cataract: Systematic review and meta-analysis

2020 , Antonio-Aguirre, Bani , Palacio Pastrana, Claudia , Mendoza Velásquez, Cristina , Camacho-Ordóñez, Azyadeh , Zepeda-Palacio, Claudia , Estrada Mena, Francisco Javier , Pérez Ortiz, Andric Christopher

Purpose : Cataracts are a clinically heterogeneous disorder affecting up to 12% of the population aged 40 years and older. Multiple environmental and genetic factors influence disease susceptibility. Glutathione S-transferase (GST) genes deletion might be involved in cataractogenesis, through impaired conjugation of reduced glutathione. Excessive ROS could promote earlier lens opacification. To date, no systematic studies have assessed the effect of GST polymorphisms and age of onset of cataracts. Here, we aim to evaluate the association between GST polymorphisms, found through a systematic review, on cataracts age of presentation by meta-analysis. Methods : We conducted a systematic search in MEDLINE, HuGENET, and LILACS databases. We included observational studies that determined genotype based on validated genotyping instruments and with a stringent quality check (e.g., genotyping call rate ≥ 95%, HWE in controls). We abstracted counts of null alleles of GSTM1 and GSTT1 in cases and controls. We performed a meta-analysis of these measurements using random and fixed effects models, subgrouping by age of diagnosis. ©Investigative Ophthalmology & Visual Science

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Brief inflammatory profile after femtosecond laser-assisted pretreatment in nuclear cataract surgery

2020 , Palacio, Claudia , Pérez Ortiz, Andric Christopher , Antonio-Aguirre, Bani , Mendoza Velásquez, Cristina , Camacho-Ordóñez, Azyadeh , Estrada Mena, Francisco Javier , Orozco-Diaz, Lorena , Lima-Gomez, Virgilio

Purpose : Femtosecond laser-assisted cataract surgery (FLACS) is an FDA-approved treatment with increasing popularity. So far, there are no studies assessing the inflammatory response to FLACS corneal incision, anterior capsulorhexis, and nuclear fragmentation before phacoemulsification in patients exclusively diagnosed with nuclear cataracts. Here, we measured key inflammatory markers in the aqueous humor of patients exposed to femtosecond laser pretreatment. Methods : We performed a cross-sectional study of 67 patients diagnosed with nuclear cataract (LOCS III NO3) undergoing surgery. Of those, 34 were exposed to femtosecond laser pretreatment. At the beginning of the surgery, we collected aqueous humor samples under sterile conditions through a side-port incision. Samples were collected 8 minutes after laser treatment. We measured PgE2 by competitive ELISA, IL-1 β, and IL-6 through cytometric bead arrays. We performed bivariate and stratified analysis in SAS v.9.4. ©Investigative Ophthalmology & Visual Science

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