Ernesto Prado Montes de Oca

Ernesto Prado Montes de Oca
Centro de Investigación y Asistencia en Tecnología y Diseño del Estado de Jalisco | CIATEJ · Medical and Pharmaceutical Biotechnology Unit

M.Sc. and Ph.D. in Human Genetics
Update of SNPClinic software to predict human regulatory SNPs and their function in cancer and pharmacogenomics.

About

48
Publications
10,817
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476
Citations
Citations since 2017
22 Research Items
255 Citations
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Introduction
Regulatory SNPs (rSNPs) prediction & validation with our proprietary software SNPClinic v.1.0 to design ethnic- and cell/tissue-specific assays for personalized medicine, companion diagnostics and drug target discovery in Fabry (PMID:36138766), pharmacogenes (in process), psoriasis (PMID:33898962), gastric cancer (PMID:33465060), constitutive expression of tumor suppressor gene human beta defensin 1 (DEFB1, PMID:31994826), TB & HIV/AIDS (PMID:26447748). Currently working on pancreatic cancer.
Additional affiliations
August 2019 - July 2020
The Scripps Research Institute
Position
  • Professional Scientific Collaborator
Description
  • Optimization of Polygenic Risk Scores for the Hispanic Population in Coronary Artery Disease (MyGeneRank app project) https://mygenerank.scripps.edu/.
December 2018 - December 2018
University of Guadalajara
Position
  • Professor
Description
  • Lecture "Fishing genetic variants in the ocean of human diseases: SNPClinic software presentation"
September 2018 - September 2018
University of Guadalajara
Position
  • Organizing Comittee
Description
  • "Type 2 diabetes mellitus: prevention, diagnostics and treatment" Symposium. Lectures: "Redefining T2DM: new discoveries and future insights" and "Design of a T2DM mixed panel of susceptibility and pharmacogenomics for the Mexican population".
Education
February 2003 - November 2007
University of Guadalajara
Field of study
  • Human Genetics
September 1996 - December 2001
University of Guadalajara
Field of study
  • Biology

Publications

Publications (48)
Article
Full-text available
Psoriasis is an autoimmune disease associated with interleukins, their receptors, key transcription factors and more recently, antimicrobial peptides (AMPs). Cathelicidin LL-37 is an AMP proposed to play a fundamental role in psoriasis etiology. With our proprietary software SNPClinic v.1.0, we analyzed 203 common SNPs (frequency > 1%) in proximal...
Article
Full-text available
While high risk of failure is an inherent part of developing innovative therapies, it can be reduced by adherence to evidence-based rigorous research practices. Numerous analyses conducted to date have clearly identified measures that need to be taken to improve research rigor. Supported through the European Union's Innovative Medicines Initiative,...
Article
Full-text available
We developed a smartphone application, MyGeneRank , to conduct a prospective observational cohort study (NCT03277365) involving the automated generation, communication, and electronic capture of response to a polygenic risk score (PRS) for coronary artery disease (CAD). Adults with a smartphone and an existing 23andMe genetic profiling self-referre...
Article
Full-text available
Long non-protein coding RNAs (lncRNAs, predicted to be up to 200,000 in the human genome) are nucleic acids of more than 200 nucleotides that not only play primordial roles in the regulation of chromatin states, but also are capable of decoying or scaffolding proteins (e.g., transcription factors, TFs; host and viral proteins), DNA (e.g., promoters...
Article
Full-text available
Even though a mutation in monogenic diseases leads to a “classic” manifestation, many disorders exhibit great clinical variability that could be due to modifying genes also called minor genes. Fabry disease (FD) is an X-linked inborn error resulting from the deficient or absent activity of alpha-galactosidase A (α-GAL) enzyme, that leads to deposit...
Article
Diabetic kidney disease (DKD) is one of the more limiting complications to the quality of life of diabetes mellitus patients. Studies including cultured cells, animal models, and case-control studies highlight the role of human β-defensin-1 (hBD-1) in diabetes. This study assessed the association of hBD-1 gene (DEFB1) functional variations −52 G/A...
Data
Introduction to the EQIPD quality system
Preprint
Full-text available
The degree to which polygenic risk scores (PRS) influence preventive health is the subject of debate, with few prospective studies completed to date. We developed a smartphone application for the prospective and automated generation, communication, and electronic capture of response to a PRS for coronary artery disease (CAD). We evaluated self-repo...
Article
Full-text available
Background: Early-onset diffuse gastric cancer (EODGC) occurs at or before 50 years of age. Pathogenic mutations and germline deletions in the CDH1 gene (E-cadherin) are well-documented genetic factors associated with the causes of EODGC. Objective: The objective of the study was to study CDH1 germline variants and their potential functional imp...
Article
Full-text available
The aim of this pilot study was to determine the association of the P10L (rs2675703) polymorphism of the OPN4 gene with chronic insomnia in uncertain etiology in a Mexican population. A case control study was performed including 98 healthy subjects and 29 individuals with chronic insomnia not related to mental disorders, medical condition, medicati...
Article
Full-text available
The prediction of regulatory single nucleotide polymorphisms (rSNPs) in proximal promoters of disease‐related genes could be a useful tool for personalized medicine in both patient stratification and customized therapy. Using our previously reported method of rSNPs prediction (currently a software called SNPClinic v.1.0) as well as with PredictSNP...
Article
Full-text available
Volatile esters are formed during alcoholic fermentation, particularly performed by yeasts. These compounds confer “fruity" attributes to drinks. Fermented beverages contain namely two groups of esters: acetate esters formed by alcohol acetyltransferase enzymes (ATF1 and ATF2) and ethyl esters produced by the acyl-CoA ethanol O acyltransferase enzy...
Presentation
Full-text available
Applications of the SNPClinic v.1.0: -Discover novel therapeutic targets and companion diagnostics (drug design) -Ancillary in the rational design of preclinical and clinical studies -Nutrigenomics and fitness -Pharmacogenomics -Preventive medicine -Genomic interpretation of regulatory regions (human promoters)
Cover Page
Full-text available
prevention, diagnostics and side effect of drugs for the treatment of Type 2 diabetes mellitus
Article
Full-text available
Human β-defensin 1 (hBD-1) is a multifaceted antimicrobial peptide being a tumour suppressor and, depending on call of duty, capable of inducing self-nets and neutrophil extracellular traps (NETs) to trap and/or kill bacteria, participates in inflammatory responses in chronic diseases including hBD-3 upregulation and also capable of up/downregulati...
Presentation
Full-text available
Several algorithms and databases have been developed to predict regulatory Single Nucleotide Polymorphisms (rSNPs) in the human genome. However very few have provided a rational hypothesis for the mechanism of the altered expression, and the existing algorithms generally present high sensitivity and low specificity resulting in a high number of fal...
Article
Background Vitiligo is a pigmentation disorder of autoimmune aetiology. Polymorphisms in beta‐defensin genes have been linked to a predisposition to some autoimmune disorders. Aim To evaluate the role of polymorphisms in DEFB1, the gene encoding for human beta‐defensin (HBD)‐1 and its 5′ untranslated region in nonsegmental vitiligo. Methods In to...
Presentation
Full-text available
How to submit and perform research and development (R&D) proposals in personalized medicine
Article
Full-text available
Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems...
Poster
Full-text available
Description, values, mission, vision, research lines, carrer development, our team, patents, recent publications and services provided by LAMPER
Article
Bacteria living in a surface-attached community that contains a heterogeneous population, coated with an extracellular matrix, and showing drug tolerance (biofilms) are often linked to chronic infections. In mycobacteria, the pellicle mode of growth has been equated to an in vitro biofilm and meets several of the criteria mentioned above, while tub...
Article
Full-text available
Hosts’ innate defense systems are upregulated by antimicrobial peptide elicitors (APEs). Our aim was to investigate the effects of hyperthermia, ultraviolet A rays (UVA), and ultraviolet C rays (UVC) as well as glucose and ascorbic acid (AA) on the regulation of human β-defensin 1 (DEFB1), cathelicidin (CAMP), and interferon-γ (IFNG) genes in norma...
Patent
La presente invención refiere al desarrollo de un dispositivo portátil de emisión de radiación UVA (365 nm) y UVC (254 nm). Esta lámpara es un dispositivo portátil con dos tipos de fuente de energía una con corriente alterna y la segunda con corriente directa (baterías). La lámpara tiene dos aditamentos para la aplicación focalizada uno para ser us...
Patent
Full-text available
(EN) The invention relates to a method for the enzymatic synthesis of lithocholic acid oleate and for the efficient purification of same. The lithocholic acid oleate is a molecule that serves as an antimicrobial peptide elicitor and has an indirect immunomodulating antimicrobial activity by inducing the expression or overexpression of antimicrobial...
Article
Immunologic and genetic factors are involved in HIV-1/AIDS pathogenesis. Defensins are key molecules in innate immunity that participate in the control and/or development of infection and disease. Using PCR-RFLPs, we determined the association between HIV-1/AIDS and human β-defensin 1 (DEFB1) 5'UTR -52 G/A (rs1799946), -44 C/G (rs1800972), and -20...
Patent
La presente invención refiere un método para sintetizar enzimáticamente el etil litocolato y purificarlo de manera eficiente. El etil litocolato es una molécula que sirve como inhibidor de péptidos antimicrobianos, el cual presenta actividad 5 inmunomoduladora indirecta al inhibir la expresión los genes péptidos antimicrobiano CAMP e IFNG (interfer...
Chapter
Full-text available
Antimicrobial peptides or host defense peptides as defensins and hepcidin are fundamental components of human innate immunity. A growing body of recent evidence suggests they have a role in a broad range of diseases as cancer, allergies and infections, including leprosy. Antimicrobial peptide inhibitors (APIs) are physical, chemical or biological a...
Article
Polymorphisms in the CAMP gene (cathelicidin) have not been tested in tuberculosis susceptibility. We tested polymorphisms rs9844812 (HIF-1α::ARNT binding site) and rs56122065 (CAMP) plus rs1800972 (DEFB1). SNP rs1800972 was associated with extrapulmonary tuberculosis (EPTB) in a codominant model (genotype CG, P = 0.037, OR 4.82; 95% CI: 0.92-47.42...
Data
(Author abstract) Polymorphisms in the CAMP gene (cathelicidin) have not been tested in tuberculosis susceptibility or in any other genetic association study. We tested polymorphisms rs9844812 (HIF-1α::ARNT binding site) and rs56122065 (7 bp deletion in CAMP that produces a truncated precursor) plus rs1800972 (NFkB1 binding site in DEFB1). SNP rs18...
Article
Full-text available
Antimicrobial peptides or host defense peptides are fundamental components of human innate immunity. Recent and growing evidence suggests they have a role in a broad range of diseases, including cancer, allergies and susceptibility to infection, including HIV/AIDS. Antimicrobial peptide elicitors (APEs) are physical, biological or chemical agents t...
Article
Full-text available
Tuberculosis in childhood differs from the adult clinical form and even has been suggested that it is a different disease due to its differential signs. However, prevention, diagnostics, and therapeutic efforts have been biased toward adult clinical care. Sensibility and specificity of new diagnostic approaches as GeneXpert, electronic nose (E-nose...
Article
Full-text available
Genetic and serum markers in human host can predict leprosy susceptibility per se as well as be useful in classification and/or prediction of clinical variants and immunological responses in leprosy. Adequate and timely assessment of potential risks associated with these 38 host leprosy genes could diminish epidemiological burden and improve life q...
Article
Unlabelled: Leprosy is an infectious disease caused by Mycobacterium leprae. The peptide human beta-defensin 1 is an antimicrobial effector of innate epithelial immunity. A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defensin 1 gene (DEFB1) - 668 C/G (-44 C/G or rs1800972; in 5' UTR), 692 A/G (-20...
Article
Full-text available
The drawbacks associated with antibiotic-based treatment of infectious diseases including an increase in multidrug-resistant strains and adverse reactions have lead to the search of antimicrobial peptide elicitors (APE), harmless substances that boost an overexpression of innate immunity genes. Knowledge on innate immunity activation pathways and t...
Article
Atopic dermatitis (AD) is a chronic multifactorial allergic disease with unclear etiology. The antimicrobial human beta-defensin 1 is chemotactic for dendritic cells, which are important regulators of allergic immune responses. In an attempt to identify useful markers that could predict susceptibility to AD, we investigated single nucleotide polymo...
Article
Polymerase chain reaction-restriction fragment length polymorphism assays for two single nucleotide polymorphisms in the human beta-defensin 1 gene have been validated with real-time PCR in 101 healthy individuals from western Mexico. Allele frequencies were 52.5% (692-A) and 98.5% (1836-A). These assays can be confidently used as a cheaper alterna...
Article
Human defensins are endogenous antimicrobial peptides with prophylactic and therapeutic potential against HIV. The ability of defensins to bind the HIV envelope could be exploited to design topic agents that block viral entry into exposed mucosa. Additionally, their capacity to inhibit viral replication, complement system activation, dendritic and...
Article
Full-text available
Human defensins are endogenous antimicrobial peptides with prophylactic and therapeutic potential against HIV. The ability of defensins to bind the HIV envelope could be exploited to design topic agents that block viral entry into exposed mucosa. Additionally, their capacity to inhibit viral replication, complement system activation, dendritic and...

Questions

Question (1)
Question
I have the sequence and structure (PDB) of the peptide and I need to model the most likely structure in vivo on its reduced form (removing three disulfide bridges).

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Projects

Projects (3)
Project
To design a mixed panel of pharmacogenomics, nutrigenomics and preventive medicine for Type 2 diabetes mellitus targeted to the Mexican population
Project
To certify highly specialized services in the ISO 9001:2008 norm (additional to posgrade and R & D processes already certified) and to optimize 37 proprietary pharmacogenetic assays by Real-Time PCR
Project
Our two main goals are 1) to develop SNPClinic v.2.0, a proprietary software useful to predict functional regulatory SNPs in human genome (v.1.0=84.6% specificity) and 2) to validate in vitro functionality of output SNPs that are relevant to tuberculosis, HIV/AIDS and the coinfection with a focus in common alleles from the Mexican population.