Marta E. Alarcón‐Riquelme
A5052973247- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Monoclonal and Polyclonal Antibodies Research
- Immune Cell Function and Interaction
- Atherosclerosis and Cardiovascular Diseases
- Diabetes and associated disorders
- Cytokine Signaling Pathways and Interactions
- Salivary Gland Disorders and Functions
- Systemic Sclerosis and Related Diseases
- Genetic Associations and Epidemiology
- interferon and immune responses
- Cancer-related molecular mechanisms research
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Chronic Lymphocytic Leukemia Research
- Immune Response and Inflammation
- Rheumatoid Arthritis Research and Therapies
- Lymphoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Single-cell and spatial transcriptomics
- Inflammasome and immune disorders
- Renal Diseases and Glomerulopathies
- Celiac Disease Research and Management
- Cell Adhesion Molecules Research
- Forensic and Genetic Research
Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
2016-2025
Karolinska Institutet
2016-2025
Universidad de Granada
2012-2025
Parque Tecnológico de la Salud
2016-2025
Johns Hopkins University
2024
Equality Now
2024
American College of Rheumatology
2020-2024
Genomics Medicine (Ireland)
2024
Genomics (United Kingdom)
2015-2022
Universidad de Salamanca
2022
To provide a resource for assessing continental ancestry in wide variety of genetic studies, we identified, validated, and characterized set 128 informative markers (AIMs). The were chosen informativeness, genome-wide distribution, genotype reproducibility on two platforms (TaqMan assays Illumina arrays). We analyzed genotyping data from 825 subjects with diverse ancestry, including European, East Asian, Amerindian, African, South Mexican, Puerto Rican. A comprehensive AIMs subsets as small...
Abstract Objective To determine whether there is familial aggregation of systemic lupus erythematosus (SLE) and/or other autoimmune diseases in SLE patients and to identify clinical differences between with those without autoimmunity. Methods We interviewed members the Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL) inception cohort 1,214 ascertain they had relatives diseases. Identified were studied. Familial was tested using reported highest intermediate population...
Genomewide association studies of autoimmune diseases have mapped hundreds susceptibility regions in the genome. However, only for a few signals has causal gene been identified, and even fewer variant underlying mechanism defined. Coincident associations DNA variants affecting both risk disease quantitative immune variables provide an informative route to explore mechanisms drug-targetable pathways.Using case-control samples from Sardinia, Italy, we performed genomewide study multiple...
Objective Glycans attached to the Fc portion of IgG are important modulators effector functions. Interindividual differences in glycome composition large and they associate strongly with different inflammatory autoimmune diseases. IKZF1 , HLA–DQ2A/B BACH2 genetic loci that affect show pleiotropy systemic lupus erythematosus (SLE), indicating a potentially causative role aberrant glycosylation SLE. We undertook this multicenter case–control study determine whether SLE is associated altered...
South America has a complex demographic history shaped by multiple migration and admixture events in pre- post-colonial times. Settled over 14,000 years ago Native Americans, experienced migrations of European African individuals, similar to other regions the Americas. However, timing magnitude these resulted markedly different patterns throughout Latin America. We use genome-wide SNP data for 437 admixed individuals from 5 countries (Colombia, Ecuador, Peru, Chile, Argentina) explore...
Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in genes encoding genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières syndrome (AGS), a pediatric disorder shares features with autoimmune disease systemic lupus erythematosus (SLE). Here we determined heterozygous parents of AGS patients exhibit an intermediate phenotype and demonstrated genetic association between rare RNASEH2 sequence...
Objective Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease with limited reliable diagnostic biomarkers. We investigated whether gene methylation could meet sensitivity and specificity criteria for robust biomarker. Methods IFI44L promoter was examined using DNA samples from discovery set including 377 patients SLE, 358 healthy controls (HCs) 353 rheumatoid arthritis (RA). Two independent sets 1144 1350 HCs, 429 RA 199 primary Sjögren's syndrome (pSS) were used...
Systemic lupus erythematosus (SLE), a complex polygenic autoimmune disease, is associated with increased complement activation. Variants of genes encoding regulator factor H (CFH) and five CFH-related proteins (CFHR1-CFHR5) within the chromosome 1q32 locus linked to SLE, have been multiple human diseases may contribute dysregulated activation predisposing SLE. We assessed 60 SNPs covering CFH-CFHRs region for association SLE in 15,864 case-control subjects derived from four ethnic groups....
Systemic lupus erythematosus (SLE) is a clinically heterogeneous, systemic autoimmune disease characterized by autoantibody formation. Previously published genome-wide association studies (GWAS) have investigated SLE as single phenotype. Therefore, we conducted GWAS to identify genetic factors associated with anti-dsDNA production, SLE-related diagnostic and clinical importance. Using two independent datasets, over 400,000 nucleotide polymorphisms (SNPs) were studied in total of 1,717 cases...
Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. Recent studies have greatly expanded the number of established SLE risk alleles, but distribution multiple alleles in cases versus controls and their relationship to subphenotypes not been studied. We studied 22 susceptibility polymorphisms previous genome-wide evidence association (p < 5 x 10⁻¹²⁸) 1919 from 9 independent Caucasian case series 4813 controls. The mean was 15.1 (SD...
Abstract Background Case-control genetic studies of complex human diseases can be confounded by population stratification. This issue addressed using panels ancestry informative markers (AIMs) that provide substantial substructure information. Previously, we described a panel 128 SNP AIMs were designed as tool for ascertaining the origins subjects from Europe, Sub-Saharan Africa, Americas, and East Asia. Results In this study, genotypes Human Genome Diversity Panel populations used to...
<h3>Background</h3> Systemic lupus erythematosus (SLE) is a chronic, multiorgan, autoimmune disease that affects people of all ages and ethnicities. <h3>Objectives</h3> To explore the relationship between age at onset many diverse manifestations SLE. Additionally, to determine genetic risk in patients with <h3>Methods</h3> The SLE were explored multi-racial cohort 1317 patients. Patients genotyped across 19 confirmed susceptibility loci for Logistic regression was used relationships number...