16 Result(s)
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Jorge Esparza-Gordillo
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Article
Open AccessMap** the functional impact of non-coding regulatory elements in primary T cells through single-cell CRISPR screens
Drug targets with genetic evidence are expected to increase clinical success by at least twofold. Yet, translating disease-associated genetic variants into functional knowledge remains a fundamental challenge ...
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Article
Open AccessImmune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
During activation, T cells undergo extensive gene expression changes that shape the properties of cells to exert their effector function. Understanding the regulation of this process could help explain how gen...
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Article
Open AccessRare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema su...
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Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity
COVID-19 presents with a wide range of severity, from asymptomatic in some individuals to fatal in others. Based on a study of 1,051,032 23andMe research participants, we report genetic and nongenetic associat...
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Article
Open AccessSingle-cell transcriptomics identifies an effectorness gradient sha** the response of CD4+ T cells to cytokines
Naïve CD4+ T cells coordinate the immune response by acquiring an effector phenotype in response to cytokines. However, the cytokine responses in memory T cells remain largely understudied. Here we use quantitati...
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Article
Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases
Immune-disease-associated variants are enriched in active chromatin regions of T cells and macrophages. However, whether these variants function in specific cell states is unknown. Here we stimulated T cells a...
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Article
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data
Osteoarthritis is the most common musculoskeletal disease and the leading cause of disability globally. Here, we performed a genome-wide association study for osteoarthritis (77,052 cases and 378,169 controls)...
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Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
This large-scale genome-wide association analysis of subjects with asthma, hay fever or eczema provides insights into the shared genetic basis of these allergic diseases. The findings suggest that these diseas...
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Open AccessAbstracts from the Food Allergy and Anaphylaxis Meeting 2016
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Article
Open Access4th Pediatric Allergy and Asthma Meeting (PAAM)
WORKSHOP 4: Challenging clinical scenarios (CS01–CS06)
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Article
Open AccessMeta-analysis identifies seven susceptibility loci involved in the atopic march
Eczema often precedes the development of asthma in a disease course called the ‘atopic march’. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-w...
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Article
High-density genoty** study identifies four new susceptibility loci for atopic dermatitis
Andre Franke and colleagues perform an association study of atopic dermatitis based on high-density genoty** using the Immunochip array. They identify four new susceptibility loci for this common inflammator...
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Article
Open AccessMulti-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis
Genome-wide association studies (GWAS) provide an increasing number of single nucleotide polymorphisms (SNPs) associated with diseases. Our aim is to exploit those closely spaced SNPs in candidate regions for ...
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Article
A common variant on chromosome 11q13 is associated with atopic dermatitis
Young-Ae Lee and colleagues report results of a genome-wide association study for atopic dermatitis. They identify a risk locus on chromosome 11q13 in a region previously associated with risk of Crohn's disease.
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Article
Genetic and environmental factors influencing the human factor H plasma levels
Factor H is a plasma protein that plays a critical role in the regulation of complement activation in fluid phase and on cellular surfaces. Over the years numerous reports have illustrated the association of f...
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Article
Genetic determinants of variation in the plasma levels of the C4b-binding protein (C4BP) in Spanish families
The C4b-binding protein (C4BP) is a plasma glycoprotein implicated in the homeostasis of the complement and coagulation systems. It is composed of two polypeptides (α and β), which form three plasma oligomers ...
