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GWAS

Minor Hypertrophic Cardiomyopathy Genes, Major Insights into the Genetics of Cardiomyopathies

[Nature Reviews Cardiology] 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.

Genetic Variations of DNA Bindings of FOXA1 and Co-Factors in Breast Cancer Susceptibility

[Nature Communications] 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.

Deciphering Pathogenicity of Variants of Uncertain Significance with CRISPR-Edited iPSCs

[Trends in Genetics] 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.

Functional Characterization of T2D-Associated SNP Effects on Baseline and ER Stress-Responsive β Cell Transcriptional Activation

[Nature Communications] 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.

SNP rs4971059 Predisposes to Breast Carcinogenesis and Chemoresistance via TRIM46-Mediated HDAC1 Degradation

[EMBO Journal] 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.

Large Parental Differences in Chromatin Organization in Pancreatic Beta Cell Line Explaining Diabetes Susceptibility Effects

[Nature Communications] 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.

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