Javier Marrugo

ORCID: 0000-0001-9157-4269
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About
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Research Areas
  • Asthma and respiratory diseases
  • Genetic Associations and Epidemiology
  • Allergic Rhinitis and Sensitization
  • Forensic and Genetic Research
  • Gout, Hyperuricemia, Uric Acid
  • Genetic diversity and population structure
  • Dermatology and Skin Diseases
  • Food Allergy and Anaphylaxis Research
  • Rheumatoid Arthritis Research and Therapies
  • Liver Disease Diagnosis and Treatment
  • Genomics and Phylogenetic Studies
  • RNA and protein synthesis mechanisms
  • Cancer-related molecular mechanisms research
  • Diabetes and associated disorders
  • Digestive system and related health
  • Muscle and Compartmental Disorders
  • Chromosomal and Genetic Variations
  • Bacillus and Francisella bacterial research
  • Alcohol Consumption and Health Effects
  • Bone and Joint Diseases
  • Contact Dermatitis and Allergies
  • Eosinophilic Esophagitis
  • Health and Lifestyle Studies
  • Entomological Studies and Ecology
  • IL-33, ST2, and ILC Pathways

Centre Hospitalier Universitaire de Sherbrooke
2023-2024

Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal
2023-2024

Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean
2023-2024

Harvard University
2024

Brigham and Women's Hospital
2024

Boston University
2024

University of Cartagena
2008-2021

Universidad Politécnica de Cartagena
2016

Johns Hopkins Medicine
1996

Johns Hopkins University
1996

We used a deeply sequenced dataset of 910 individuals, all African descent, to construct set DNA sequences that is present in these individuals but missing from the reference human genome. aligned 1.19 trillion reads genome (GRCh38), collected failed align, and assembled into contiguous (contigs). then compared contigs one another identify unique representing regions pan-genome Our analysis revealed 296,485,284 bp 125,715 distinct populations demonstrating contains ~10% more than current...

10.1038/s41588-018-0273-y article EN cc-by Nature Genetics 2018-11-13
Rasika A. Mathias Margaret A. Taub Christopher R. Gignoux Wenqing Fu Shaila Musharoff and 95 more Timothy D. O’Connor Candelaria Vergara Dara G. Torgerson María Pino-Yanes Suyash Shringarpure Lili Huang Nicholas Rafaels Meher Preethi Boorgula H. Richard Johnston Victor E. Ortega Albert M. Levin Wei Song Raúl Torres Badri Padhukasahasram Celeste Eng Delmy-Aracely Mejia-Mejia Trevor S. Ferguson Zhaohui Qin Alan F. Scott Maria Yazdanbakhsh James G. Wilson Javier Marrugo Leslie A. Lange Rajesh Kumar Pedro C. Avila L. Keoki Williams Harold Watson Lorraine B. Ware Christopher O. Olopade Olufunmilayo I. Olopade Ricardo Riccio Oliveira Carole Ober Dan L. Nicolae Deborah A. Meyers Alvaro Mayorga Jennifer Knight‐Madden Tina V. Hartert Nadia N. Hansel Marilyn G. Foreman Jean G. Ford Mezbah U. Faruque Georgia M. Dunston Luis Caraballo Esteban G. Burchard Eugene R. Bleecker Maria Ilma Araújo Edwin Francisco Herrera-Paz Kimberly Gietzen Wendy E. Grus Michael J. Bamshad Carlos D. Bustamante Eimear E. Kenny Ryan D. Hernandez Terri H. Beaty Ingo Ruczinski Joshua M. Akey Monica Campbell Sameer Chavan Cassandra Foster Li Gao Edward A. Horowitz Romina Ortiz Joseph Potee Jingjing Gao Yi‐Juan Hu Thomas Hansen Aniket Deshpande Devin P. Locke Leslie C. Grammer Kwang-YounA Kim Robert P. Schleimer Francisco M. De La Vega Zachary A. Szpiech Oluwafemi Oluwole Ganiyu Arinola Adolfo Correa Solomon K. Musani Jessica X. Chong Deborah A. Nickerson Alexander P. Reiner Pissamai Maul Trevor Maul B. Martínez Catherine Meza Gerardo Ayestas Pamela Landaverde-Torres Said Omar Leiva Erazo Rosella Martinez L Mayorga Hector Ramos Allan Saenz Gloria Varela Olga Marina Vasquez Maureen Samms‐Vaughan Rainford Wilks

Abstract The African Diaspora in the Western Hemisphere represents one of largest forced migrations history and had a profound impact on genetic diversity modern populations. To date, fine-scale population structure descendants remains largely uncharacterized. Here we present variation from deeply sequenced genomes 642 individuals North South American, Caribbean West populations, substantially increasing lexicon human genomic suggesting much to be discovered African-admixed populations...

10.1038/ncomms12522 article EN cc-by Nature Communications 2016-10-11

<h3>Introduction</h3> Chronic kidney disease (CKD) is a common comorbidity of rheumatoid arthritis (RA). The association longitudinal RA activity with long-term function has remained uncertain. <h3>Method</h3> We analysed multicentre prospective registry in the USA from 2001 to 2022. exposure was updated time-averaged Clinical Disease Activity Index (TA-CDAI) categories study enrolment. primary outcome estimated glomerular filtration rate (eGFR) change. Secondary outcomes included...

10.1136/ard-2024-226156 article EN Annals of the Rheumatic Diseases 2024-08-26
Michael D. Kessler Laura M. Yerges-Armstrong Margaret A. Taub Amol C. Shetty Kristin A. Maloney and 95 more Linda Jo Bone Jeng Ingo Ruczinski Albert M. Levin L. Keoki Williams Terri H. Beaty Rasika A. Mathias Kathleen C. Barnes Meher Preethi Boorgula Monica Campbell Sameer Chavan Jean G. Ford Cassandra Foster Li Gao Nadia N. Hansel Edward A. Horowitz Lili Huang Romina Ortiz Joseph Potee Nicholas Rafaels Alan L. Scott Candelaria Vergara Jingjing Gao Yi‐Juan Hu H. Richard Johnston Zhaohui Qin Badri Padhukasahasram Georgia M. Dunston Mezbah U. Faruque Eimear E. Kenny Kimberly Gietzen Mark Hansen Rob Genuario Dave Bullis Cindy Lawley Aniket Deshpande Wendy E. Grus Devin P. Locke Marilyn G. Foreman Pedro C. Avila Leslie C. Grammer Kwang-YounA Kim Rajesh Kumar Robert P. Schleimer Carlos D. Bustamante Francisco M. De La Vega Chris Gignoux Suyash Shringarpure Shaila Musharoff Genevieve L. Wojcik Esteban Burchard Celeste Eng Pierre‐Antoine Gourraud Ryan D. Hernandez Antoine Lizée María Pino-Yanes Dara G. Torgerson Zachary A. Szpiech Raúl Torres Dan L. Nicolae Carole Ober Christopher O. Olopade Olufunmilayo I. Olopade Oluwafemi Oluwole Ganiyu Arinola Wei Song Gonçalo R. Abecasis Adolfo Correa Solomon K. Musani James G. Wilson Leslie A. Lange Joshua M. Akey Michael J. Bamshad Jessica X. Chong Wenqing Fu Deborah A. Nickerson Alexander P. Reiner Tina V. Hartert Lorraine B. Ware Eugene R. Bleecker Deborah Meyers Victor E. Ortega Maul R. N. Pissamai Maul R. N. Trevor Harold Watson Maria Ilma Araújo Ricardo Riccio Oliveira Luis Caraballo Javier Marrugo B. Martínez Catherine Meza Gerardo Ayestas Edwin Francisco Herrera-Paz Pamela Landaverde-Torres Said Omar Leiva Erazo Rosella Martinez

Abstract To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from Consortium on Asthma among African-ancestry Populations Americas (CAAPA) project to evaluate typical filters databases. We find significant correlations between estimated African ancestry proportions number variants per individual all variant classification sets but one. The source these is highlighted more detail by looking at interaction filtering...

10.1038/ncomms12521 article EN cc-by Nature Communications 2016-10-11

Objective Calcium pyrophosphate deposition (CPPD) disease was associated with osteopenia in two cross‐sectional studies. We compared fracture risks patients acute calcium (CPP) crystal arthritis versus matched comparators. Methods performed a longitudinal cohort study using electronic health record data from single large academic system, 1991 to 2023. Patients one or more episodes of CPP were comparators on the index date (first documentation “pseudogout” synovial fluid crystals encounter)...

10.1002/art.42798 article EN Arthritis & Rheumatology 2024-01-15

Despite the established cross-sectional association between alcohol intake and serum urate (SU), its longitudinal remains unknown. This study aimed to determine whether changes in have a clinically relevant with SU change.

10.1136/ard-2023-225389 article EN Annals of the Rheumatic Diseases 2024-02-28
H. Richard Johnston Yi‐Juan Hu Jingjing Gao Timothy D. O’Connor Gonçalo R. Abecasis and 95 more Genevieve L. Wojcik Christopher R. Gignoux Pierre‐Antoine Gourraud Antoine Lizée Thomas Hansen Rob Genuario Dave Bullis Cindy Lawley Eimear E. Kenny Carlos D. Bustamante Terri H. Beaty Rasika A. Mathias Kathleen C. Barnes Zhaohui Qin Meher Preethi Boorgula Monica Campbell Sameer Chavan Jean G. Ford Cassandra Foster Li Gao Nadia N. Hansel Edward A. Horowitz Lili Huang Romina Ortiz Joseph Potee Nicholas Rafaels Ingo Ruczinski Alan F. Scott Margaret A. Taub Candelaria Vergara Albert M. Levin Badri Padhukasahasram L. Keoki Williams Georgia M. Dunston Mezbah U. Faruque Kimberly Gietzen Aniket Deshpande Wendy E. Grus Devin P. Locke Marilyn G. Foreman Pedro C. Avila Leslie C. Grammer Kwang‐Youn A. Kim Rajesh Kumar R.P. Schleimer Francisco M. De La Vega Suyash Shringarpure Shaila Musharoff Esteban G. Burchard Celeste Eng Ryan D. Hernandez María Pino-Yanes Dara G. Torgerson Zachary A. Szpiech Raúl Torres Dan L. Nicolae Carole Ober Christopher O. Olopade Olufunmilayo I. Olopade Oluwafemi Oluwole Ganiyu Olatunbosun Arinola Wei Song Adolfo Correa Solomon K. Musani James Wilson Leslie A. Lange Joshua M. Akey Michael J. Bamshad Jessica X. Chong Wenqing Fu Deborah A. Nickerson Alexander P. Reiner Tina V. Hartert Lorraine B. Ware Eugene R. Bleecker Deborah A. Meyers Victor E. Ortega Pissamai Maul Trevor Maul Harold Watson Maria Ilma Araújo Ricardo Riccio Oliveira Luis Caraballo Javier Marrugo B. Martínez Catherine Meza Gerardo Ayestas Edwin Francisco Herrera-Paz Pamela Landaverde-Torres Said Omar Leiva Erazo Rosella Martinez Alvaro Mayorga L Mayorga Delmy-Aracely Mejia-Mejia Hector Ramos

Abstract A primary goal of The C onsortium on sthma among frican-ancestry P opulations in the mericas (CAAPA) is to develop an ‘African Diaspora Power Chip’ (ADPC), a genotyping array consisting tagging SNPs, useful comprehensively identifying African specific genetic variation. This designed based novel variation identified 642 CAAPA samples ancestry with high coverage whole genome sequence data (~30× depth). extends pattern catalogued 1000 Genomes and Exome Sequencing Projects spectrum...

10.1038/srep46398 article EN cc-by Scientific Reports 2017-04-21

The conventional reading of the skin prick test (SPT) for diagnosing allergies is prone to inter- and intra-observer variations. Drawing contours wheals from SPT scanning them computer processing cumbersome. However, 3D technology promises best results in terms accuracy, fast acquisition, processing. In this work, we present a wide-field imaging system reconstruction SPT, propose an automated method measurement wheals. based on pyramidal decomposition parametric surface fitting estimating...

10.1371/journal.pone.0223623 article EN cc-by PLoS ONE 2019-10-21

In rheumatoid arthritis (RA), only a subset of patients develop irreversible bone destruction. Our aim was to identify microRNA (miR)‐based osteoclast‐related signature predictive erosiveness in RA. Seventy‐six adults with erosive (E) or nonerosive (NE) seropositive RA and 43 sex‐ age‐matched healthy controls were recruited. Twenty‐five miRs from peripheral blood mononuclear cell (PBMC)‐derived osteoclasts selected RNA‐Seq (discovery cohort) assessed by qPCR (replication cohort), as 33...

10.1002/jbm4.10776 article EN cc-by JBMR Plus 2023-06-05

Despite the strong association between gout and pre-diabetes, role of metformin in among individuals with pre-diabetes remains uncertain. We compared incidence rates adults starting those not using antidiabetic treatments.

10.1136/ard-2024-225652 article EN Annals of the Rheumatic Diseases 2024-05-15

Objective Our objective was to evaluate associations of weight reduction with serum urate (SU) changes and achieving an SU level &lt;6 mg/dL in the real‐world setting, outside specific interventions. Methods We analyzed systematically collected data annual medical examination participants from October 2012 2022. Exposure change (increase or decrease) between two consecutive visits, categorized as minimal (≤0.9 kg, reference), small (1.0–4.9 kg), moderate (5.0–9.9 large (≥10 kg). Outcomes...

10.1002/art.43027 article EN Arthritis & Rheumatology 2024-10-14

The conserved lymphokine elements-0 (CLE0) in the IL5 promoter is essential for expression of IL-5. Here, we report cloning and a cDNA encoding novel CLE0-binding protein, CLEBP-1 from mouse Th2 clone, D10.G4.1. Interestingly, it was found that CLEBP1 sequence almost identical to sequences known high mobility group-1 (HMG1) cDNAs. When expressed as recombinant fusion protein Escherichia coli, shown bind IL5-CLE0 element electrophoretic mobility-shift assays (EMSA) southwestern blot analysis....

10.1016/s0161-5890(96)00073-9 article EN cc-by-nc-nd Molecular Immunology 1996-10-01

Abstract San Basilio de Palenque is an Afro-descendant community near Cartagena, Colombia, founded in the sixteenth century. The recognition of historical and cultural importance has promoted several studies, namely concerning African roots its first inhabitants. To deepen knowledge origin diversity parental lineages, we analysed a sample 81 individuals for entire mtDNA Control Region as well 92 27 Y-STRs 95 51 Y-SNPs. results confirmed strong isolation Palenque, with some degree influx...

10.1038/s41598-020-77608-8 article EN cc-by Scientific Reports 2020-11-26

<h3>Background:</h3> Prediabetes is a major global public health concern, and current evidence supports the use of metformin in diabetes prevention. Despite strong association between gout prediabetes, role antidiabetic medications among prediabetics remains uncertain. <h3>Objectives:</h3> This study aimed to compare incidence rates prediabetic adults starting those not using any treatments. <h3>Methods:</h3> We conducted new-user, propensity score-matched cohort electronic record data from...

10.1136/annrheumdis-2024-eular.2328 article EN Annals of the Rheumatic Diseases 2024-06-01

<h3>Background:</h3> Prior research has found a cross-sectional association between obesity and serum urate (SU) levels. However, only limited studies evaluated the effect of weight changes on SU-level changes. <h3>Objectives:</h3> This study aimed to determine if render clinically relevant SU We also impact reduction achieving target level (SU &lt;6 mg/dL) in hyperuricemic participants (prior ≥7 mg/dL). <h3>Methods:</h3> analyzed systematically collected longitudinal database annual medical...

10.1136/annrheumdis-2024-eular.858 article EN 2024-06-01

Abstract Objectives Despite the well-established association between prediabetes and hyperuricaemia, knowledge about serum urate (SU) trends during prediabetic phase is limited. Therefore, we aimed to assess longitudinal changes of SU in individuals with prediabetes. Methods Individuals prediabetes, defined by initial haemoglobin A1c (HbA1c) levels 5.7% 6.4%, were identified using electronic health records from an academic system (2007–2022). We required at least one test before after...

10.1093/rheumatology/keae439 article EN Lara D. Veeken 2024-08-14
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