0000000000453903

AUTHOR

Josep M. Mercader

showing 5 related works from this author

Thyroid hormone receptor alpha gene variants increase the risk of developing obesity and show gene-diet interactions.

2013

Thyroid hormone receptor-beta resistance has been associated with metabolic traits. THRA gene sequencing of an obese woman (index case) who presented as empirical thyroid hormone receptor-α (THRA) resistance, disclosed a polymorphism (rs12939700) in a critical region involved in TRα alternative processing.THRA gene variants were evaluated in three independent europid populations (i) in two population cohorts at baseline (n=3417 and n=2265), 6 years later (n=2139) and (ii) in 4734 high cardiovascular risk subjects (HCVR, PREDIMED trial).The minor allele of the index case polymorphism (rs12939700), despite having a very low frequency (4%), was significantly associated with higher body mass in…

AdultMalemedicine.medical_specialtyHeterozygoteEndocrinology Diabetes and MetabolismPopulationMedicine (miscellaneous)Polymorphism Single NucleotideBody Mass IndexHypothyroidismRisk FactorsInternal medicinemedicineHumansGenetic Predisposition to DiseaseObesityeducationeducation.field_of_studyNutrition and DieteticsThyroid hormone receptorbusiness.industryThyroidOdds ratioMiddle Agedmedicine.diseaseObesityDietary FatsMinor allele frequencymedicine.anatomical_structureEndocrinologyCross-Sectional StudiesCardiovascular DiseasesSpainFemaleFranceInsulin ResistancebusinessEnergy IntakeBody mass indexHormoneThyroid Hormone Receptors alphaInternational journal of obesity (2005)
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

2019

AbstractBirth weight (BW) variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. These associations have been proposed to reflect the lifelong consequences of an adverse intrauterine environment. In earlier work, we demonstrated that much of the negative correlation between BW and adult cardio-metabolic traits could instead be attributable to shared genetic effects. However, that work and other previous studies did not systematically distinguish the direct effects of an individual’s own genotype on BW and subsequent disease risk from indirect effects of their mother’s correlated genoty…

MaleNetherlands Twin Register (NTR)LD SCORE REGRESSIONBirth Weight/geneticsPhysiologyGenome-wide association studyBLOOD-PRESSUREBlood PressureType 2 diabetesDISEASEFetal Development0302 clinical medicineModelsPregnancyRisk FactorsGenotypeBirth Weightmaternal genetic030212 general & internal medicineMaternal-Fetal Exchange0303 health sciencesBody Height/genetics1184 Genetics developmental biology physiologyHeart Diseases/etiologySingle NucleotideASSOCIATIONMetabolic Diseases/etiology3. Good healthType 2/etiologyMENDELIAN RANDOMIZATIONGROWTH/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleMaternal InheritanceMaternal Inheritance/geneticsAdultBlood Pressure/geneticsHeart DiseasesOffspringBirth weightcardio-metabolic health outcomesBiologyDiabetes Mellitus Type 2/etiologyPolymorphism Single NucleotideArticle03 medical and health sciencesGeneticMetabolic DiseasesSDG 3 - Good Health and Well-beingDiabetes mellitusMendelian randomizationGeneticsmedicineDiabetes Mellitus/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to DiseasePolymorphism030304 developmental biologyGlycemicPregnancyFetusIDENTIFICATIONModels GeneticInfant NewbornInfantbirth weightDIABETES-MELLITUSmedicine.diseaseNewbornFetal Development/geneticsBody HeightMaternal-Fetal Exchange/geneticsLIFEBlood pressureDiabetes Mellitus Type 2ORIGINSInstitut für Ernährungswissenschaft030217 neurology & neurosurgeryGenome-Wide Association Study
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Cytoskeletal transgelin 2 contributes to gender-dependent adipose tissue expandability and immune function

2019

During adipogenesis, preadipocytes' cytoskeleton reorganizes in parallel with lipid accumulation. Failure to do so may impact the ability of adipose tissue (AT) to shift between lipid storage and mobilization. Here, we identify cytoskeletal transgelin 2 (TAGLN2) as a protein expressed in AT and associated with obesity and inflammation, being normalized upon weight loss. TAGLN2 was primarily found in the adipose stromovascular cell fraction, but inflammation, TGF-β, and estradiol also prompted increased expression in human adipocytes. Tagln2 knockdown revealed a key functional role, being required for proliferation and differentiation of fat cells, whereas transgenic mice overexpressing Tagl…

0301 basic medicineGenetically modified mouseMalemedicine.medical_specialtyTHP-1 CellsBlotting WesternAdipose tissueMuscle ProteinsInflammationMice TransgenicDiet High-FatBiochemistry03 medical and health sciencesMice0302 clinical medicineImmune systemSex FactorsInternal medicineGeneticsmedicineAdipocytesAnimalsHumansObesityadipocyte protein 2CytoskeletonMolecular BiologyCytoskeletonInflammationbiologyMicrofilament ProteinsPhenotypeImmunohistochemistryMice Inbred C57BL030104 developmental biologyEndocrinologyAdipose TissueAdipogenesisbiology.proteinFemalemedicine.symptom030217 neurology & neurosurgeryBiotechnology
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Genome-wide associations for birth weight and correlations with adult disease

2016

Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P < 5 × 10(-8)). Overall, approximately 15% of variance in BW was captured by assays of fetal genetic variation. Using genet…

Male0301 basic medicineNetherlands Twin Register (NTR)AgingDatasets as TopicPhysiologyBlood PressureGenome-wide association studyCoronary Artery DiseaseType 2 diabetesBioinformaticsCHARGE Consortium Hematology Working GroupCohort Studies0302 clinical medicineBirth WeightInsulinGlucose homeostasis030212 general & internal medicineeducation.field_of_studyMultidisciplinaryAnthropometry3. Good healthPhenotype/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleGlycogenSignal TransductionAdulthypertensionGenotypeGeneral Science & TechnologyBirth weightintrauterine growthPopulationQuantitative trait locusBiologyArticlequantitative traitGenomic Imprinting03 medical and health sciencesFetusSDG 3 - Good Health and Well-beingEarly Growth Genetics (EGG) ConsortiumMD MultidisciplinaryGenetic variation/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicineHumansmetabolic disordersGenetic Predisposition to DiseaseeducationgenomeGenetic associationGenetic Variationbirth weightta3121Chromatin Assembly and Disassemblymedicine.diseaseta3123Glucose030104 developmental biologyDiabetes Mellitus Type 2Genetic Locigenome-wide association studiesadult diseaseGenome-Wide Association Study
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Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic…

2017

Abstract Objective The aim of the study was to investigate the relationship between germline variations as a prognosis biomarker in patients with advanced Non-Small-Cell-Lung-Cancer (NSCLC) subjected to first-line platinum-based treatment. Materials and Methods We carried out a two-stage genome-wide-association study in non-small-cell lung cancer patients with platinum-based chemotherapy in an exploratory sample of 181 NSCLC patients from Caucasian origin, followed by a validation on 356 NSCLC patients from the same ancestry (Valencia, Spain). Results We identified germline variants in SMYD2 as a prognostic factor for survival in patients with advanced NSCLC receiving chemotherapy. SMYD2 al…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyLung NeoplasmsGenotyping Techniquesmedicine.medical_treatmentGenome-wide association studyAntineoplastic AgentsDiseasemedicine.disease_causeNSCLCPrognostic factorsGenome-Wide-Association StudiesGermline03 medical and health sciencesInternal medicineCarcinoma Non-Small-Cell LungGenetic variationmedicineBiomarkers TumorHumansAlleleLung cancerGerm-Line MutationNeoplasm StagingPlatinumChemotherapyAdvanced stagebusiness.industryGenetic VariationHistone-Lysine N-Methyltransferasemedicine.diseasePrognosis030104 developmental biologyOncologySpainDisease ProgressionFemaleLung cancerCarcinogenesisbusinessGenome-Wide Association Study
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