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Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways
The BCR signaling pathways are rich in lupus susceptibility genes and may well provide novel opportunities for the understanding and clinical treatment of this complex disease. Expand
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
METHODS We performed a genomewide association study in a discovery set of samples obtained from 43,568 women of European ancestry using gestational duration as a continuous trait and term or pretermExpand
The Effect of Inversion at 8p23 on BLK Association with Lupus in Caucasian Population
It is found that overall association signals in the BLK region remain significant after controlling for inversion status, and a new association effect between non-inversion status and lupus phenotype has been identified. Expand
Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity
Applying the method more widely identifies associations for hundreds of transcription factors, illuminating disease mechanisms and nominating mechanisms that operate across risk loci within disease phenotypes, suggesting new models for disease origins. Expand
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease
A model to explain the tissue-specific nature of EoE that involves the interplay of allergic sensitization with an Eosinophilic esophagitis-specific, IL-13–inducible esophageal response involving CAPN14 is proposed. Expand
Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.
EoE RRRs are increased 10- to 64-fold compared with the general population, and greater birth weight difference between twins, breast-feeding, and fall birth season were associated with twin discordance in disease status. Expand
Transancestral mapping and genetic load in systemic lupus erythematosus
A large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European, African and Hispanic Amerindian ancestry identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Expand
Imputation and quality control steps for combining multiple genome-wide datasets
The eMERGE imputed dataset will serve as a valuable resource for discovery, leveraging the clinical data that can be mined from the EHR, and the relationship between allelic R2 and minor allele frequency. Expand
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
The hypothesis that trisomy X (47,XXX; occurring in ∼1 in 1,000 live female births) would be increased in patients with female‐predominant diseases compared to patients with diseases without female predominance was tested. Expand
Eosinophil viability is increased by acidic pH in a cAMP- and GPR65-dependent manner.
It is demonstrated that acidity inhibits eosinophil apoptosis and increases cellular viability in a dose-dependent manner between pH 7.5 and 6.0 and G protein-coupled receptor 65 (GPR65) is identified as the chief acid-sensing receptor expressed by eos inophils. Expand