María Martínez
A5050979549- Genetic Associations and Epidemiology
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Genetic Mapping and Diversity in Plants and Animals
- Alzheimer's disease research and treatments
- Autism Spectrum Disorder Research
- Bioinformatics and Genomic Networks
- Nuclear Receptors and Signaling
- Schizophrenia research and treatment
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Bipolar Disorder and Treatment
- Genetic and phenotypic traits in livestock
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Gene expression and cancer classification
- Dementia and Cognitive Impairment Research
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Cellular transport and secretion
- Systemic Lupus Erythematosus Research
Western University
2025
Instituto de Cancerología Las Américas
2025
Nokia (Spain)
2025
University Health Network
2016-2023
Royal Brompton Hospital
2023
UNSW Sydney
2023
Inserm
2012-2022
Digestive Health Research Institute
2016-2022
Erasmus MC
2022
MaineHealth
2022
Family and twin studies have suggested a genetic component in autism. We performed genome-wide screen with 264 microsatellites markers 51 multiplex families, using non-parametric linkage methods. Families were recruited by collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria Belgium. Using two-point multipoint affected sib-pair analyses, 11 regions gave nominal P -values of 0.05 or lower. Four these overlapped on chromosomes 2q, 7q, 16p 19p identified...
Rheumatoid arthritis (RA), the most common autoimmune disease, is associated in families with other diseases, including insulin-dependent diabetes mellitus (IDDM). Its genetic component has been suggested by familial aggregation (λs = 5), twin studies, and segregation analysis. HLA , which only susceptibility locus known, estimated to account for one-third of this component. The aim paper was identify new RA loci. A genome scan performed 114 European Caucasian sib pairs from 97 nuclear...
Objective: The authors carried out a genetic association study of 14 schizophrenia candidate genes ( RGS4, DISC1, DTNBP1, STX7, TAAR6, PPP3CC, NRG1, DRD2, HTR2A, DAOA, AKT1, CHRNA7, COMT , and ARVCF ). This tested the hypothesis with common single nucleotide polymorphisms (SNPs) in these using largest sample to date that has been collected uniform clinical methods most comprehensive set SNPs each gene. Method: included 1,870 cases (schizophrenia schizoaffective disorder) 2,002 screened...
Significance Understanding loci nominated by genome-wide association studies (GWASs) is challenging. Here, we show, using the specific example of Parkinson disease, that identification protein–protein interactions can help determine most likely candidate for several GWAS loci. This result illustrates a significant general principle will apply across multiple diseases.
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding enzyme deficient Gaucher's disease (GD) are associated with Parkinson's (PD). To investigate sequence variants, their association PD and related phenotypes a large cohort of European, mostly French, patients controls, we sequenced all exons GBA 786 from 525 unrelated multiplex families, 605 apparently sporadic 391 ethnically matched controls. mutations were significantly more frequent (odds ratio=6.98, 95% confidence interval...
<h3>Importance</h3> Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number loci shown reliably be associated with increased risk disease. Improved understanding underlying genes and mechanisms at these will key pathogenesis PD. <h3>Objective</h3> To investigate what genomic processes underlie sporadic <h3>Design Setting</h3> This genetic used bioinformatic tools Coloc transcriptome-wide (TWAS) integrate PD case-control...
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization investigate over 3,000 genes encode druggable proteins predict their efficacy as targets for disease. expression protein quantitative trait loci mimic exposure medications, we examine the causal effect on risk (in two large cohorts), age at onset progression. propose 23...
Journal Article Mutations of the presenilin I gene in families with early-onset Alzheimer's disease Get access Dominique Campion, Campion 1Laboratoire de Génétique Moléculaire, CHU Rouen76031 Rouen2Département Recherche du CHSR, Université Rouen76300 Sotteville les Rouen3INSERM U 155 Chateau Longchamp75016 Paris Search for other works by this author on: Oxford Academic PubMed Google Scholar Jean-Michel Flaman, Flaman Rouen Alexis Brice, Brice 4INSERM 28975013 Didier Hannequin, Hannequin...
Systemic sclerosis (SSc) is an orphan, complex, inflammatory disease affecting the immune system and connective tissue. SSc stands out as a severely incapacitating life-threatening rheumatic disease, with largely unknown pathogenesis. We have designed two-stage genome-wide association study of using case-control samples from France, Italy, Germany, Northern Europe. The initial scan was conducted in French post quality-control sample 564 cases 1,776 controls, almost 500 K SNPs. Two SNPs MHC...
We performed a three-stage genome-wide association study (GWAS) to identify common Parkinson's disease (PD) risk variants in the European population. The initial scan was conducted French sample of 1039 cases and 1984 controls, using almost 500 000 single nucleotide polymorphisms (SNPs). Two SNPs at SNCA were found be associated with PD significance level (P < 3 × 10−8). An additional set promising new signals identified submitted for immediate replication two independent case–control...
Abstract Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet role that mitochondrial processes play most common form disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed function-associated genes PD by leveraging improvements scale and analysis GWAS data with recent advances our understanding genetics disease. We calculated a mitochondrial-specific polygenic risk score (PRS) showed cumulative small effect...
Abstract We performed the largest genome-wide association study of PD to date, involving analysis 7.8M SNPs in 37.7K cases, 18.6K UK Biobank proxy-cases, and 1.4M controls. identified 90 independent significant signals across 78 loci, including 38 risk 37 novel loci. These variants explained 26-36% heritable PD. Tests causality within a Mendelian randomization framework putatively causal genes for 70 signals. Tissue expression enrichment suggested that signatures loci were heavily...