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UnknownMeta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Background

In recent years, research has consistently proven the occurrence of genetic overlap across autoimmune diseases, which supports the existence of common pathogenic mechanisms in autoimmunity. The objective of this study was to further investigate this shared genetic component.

Me...

S-EPMC6302306 | biostudies-literature
UnknownClinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Objective

To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations.

Methods

We describe 9 patients from 5 families in wh...
S-EPMC5735306 | biostudies-literature
UnknownTransancestral mapping and genetic load in systemic lupus erythematosus.
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58...
S-EPMC5520018 | biostudies-literature
UnknownEfficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.

Objective

To assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM).

Methods

Participants (aged 36-85 years) who completed the core study (RESILIENT [Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscl...
S-EPMC8032371 | biostudies-literature
UnknownHigh-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.
Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. We combined these data ...
S-EPMC3605761 | biostudies-literature
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