Genome-Wide Associations for Immune Traits in Two Maternal Pig Lines

The objective of this study was to identify genomic regions with a biological relevance for the immunocompetence of piglets. Genome-wide Association Studies in 535 Landrace and 461 Large White piglets were performed, investigating 20 immune relevant traits.
[BMC Genomics]
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A 584 BP Deletion in CTRB2 Inhibits Chymotrypsin B2 Activity and Secretion and Confers Risk of Pancreatic Cancer

Scientists proposed that intracellular accumulation of a nonfunctional chymotrypsinogen B2 protein led to endoplasmic reticulum stress and pancreatic inflammation, which might explain the increased pancreatic cancer risk in carriers of CTRB2 exon 6 deletion alleles.
[American Journal of Human Genetics]
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Minor Hypertrophic Cardiomyopathy Genes, Major Insights into the Genetics of Cardiomyopathies

The authors appraise the complex contribution of the non-sarcomeric, hypertrophic cardiomyopathy-associated genes to cardiomyopathies across a range of variant classes, which provides insights into the genetic basis of cardiomyopathies, causal genes at genome-wide association studies loci and the application of clinical genetic testing.
[Nature Reviews Cardiology]
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Deciphering Pathogenicity of Variants of Uncertain Significance with CRISPR-Edited iPSCs

Genetic variants play an important role in conferring risk for cardiovascular diseases (CVDs). Investigators summarize recent progress and new strategies in deciphering pathogenic variants for CVDs using CRISPR-edited human iPSCs.
[Trends in Genetics]
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Genetic Variations of DNA Bindings of FOXA1 and Co-Factors in Breast Cancer Susceptibility

Researchers developed a statistical framework to analyze extensive ChIP-seq and GWAS data, identified 22 breast cancer risk-associated transcription factors (TFs), and showed that FOXA1 and co-factors formed a core TF-transcriptional network regulating the susceptibility genes.
[Nature Communications]
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Functional Characterization of T2D-Associated SNP Effects on Baseline and ER Stress-Responsive β Cell Transcriptional Activation

Using massively parallel reporter assays, scientists tested the cis-regulatory effects of single nucleotide polymorphisms associated with type 2 diabetes (T2D) and altered in vivo islet chromatin accessibility in MIN6 β cells under steady state and pathophysiologic endoplasmic reticulum stress conditions.
[Nature Communications]
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SNP rs4971059 Predisposes to Breast Carcinogenesis and Chemoresistance via TRIM46-Mediated HDAC1 Degradation

Scientists reported that the single nucleotide polymorphism (SNP) rs4971059, one of 65 new breast cancer risk loci identified in a recent genome-wide association study, functioned as an active enhancer of TRIM46 expression. TRIM46 promoted breast cancer cell proliferation and chemoresistance in vitro and accelerated tumor growth in vivo.
[EMBO Journal]
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Large Parental Differences in Chromatin Organization in Pancreatic Beta Cell Line Explaining Diabetes Susceptibility Effects

Scientists determined the pattern of long-range contacts between an enhancer in the locus and the human INS promoter 460 kb away, in the human pancreatic β-cell line, EndoC-βH1.
[Nature Communications]
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Tempo-Spatial Regulation of the Wnt Pathway by FAM13A Modulates the Stemness of Alveolar Epithelial Progenitors

Florescence-activated flow cytometry analysis, immunofluorescence and organoid culture system were performed to identify the β-catenin/Wnt-activated cells in Fam13a+/+ or Fam13a−/− mice exposed to CS.
[Ebiomedicine]
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Genetic Variation Associated with Thyroid Autoimmunity Shapes the Systemic Immune Response to PD-1 Checkpoint Blockade

The authors studied endocrine immune related adverse events from seven clinical trials across six cancers where atezolizumab was combined with chemotherapies and compared to standard of care.
[Nature Communications]
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Transcriptome-Wide Association Study Uncovers the Role of Essential Genes in Anthracycline-Induced Cardiotoxicity

Scientists identified a genetic association between decreased expression of GDF5 and anthracycline-induced cardiotoxicity, and found that cell viability of GDF5-silenced human cardiac myocytes was significantly decreased in response to anthracycline treatment.
[NPJ Genomic Medicine]
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