• How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

How Can We Study Genetic Heterogeneity Within Hepatocellular Carcinomas?

Researchers have developed a patient-derived cell line-based model to study how intratumor heterogeneity affects sensitivity of hepatocellular carcinoma (HCC) to different therapeutic agents, reported in the January issue of Gastroenterology. HCCs have a large amount of genetic heterogeneity within each tumor, making them difficult to treat. Multiple regions of tumors

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  • How Could Variants in TM6SF2 Affect Risk for NAFLD?

How Could Variants in TM6SF2 Affect Risk for NAFLD?

The human transmembrane 6 superfamily member 2 (TM6SF2) protein regulates cholesterol metabolism in mice, researchers report in the May issue of Gastroenterology. These findings provide insight into the how a variant of TM6SF2 (encoding the amino acid change E167K) reduces total cholesterol and low-density lipoprotein cholesterol (LDL-c) levels in humans, and

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  • Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

Researchers Identify Individuals Resilient to Severe Mendelian Childhood Diseases

A genomic analysis of more than half a million people identified 13 individuals who appear to remain healthy despite carrying genetic mutations linked to severe childhood diseases. Although the biological reasons for this resilience are not yet understood, the study provides a first step toward identification of genetic variants that

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  • Does a PNPLA3 Polymorphism Promote Fibrosis Progression in Patients with Hepatitis C?

Does a PNPLA3 Polymorphism Promote Fibrosis Progression in Patients with Hepatitis C?

A single nucleotide polymorphism (SNP) in the patatin-like phospholipase domain containing 3 gene (PNPLA3) is associated with baseline level of fibrosis and its progression, but not development of hepatocellular carcinoma (HCC), in patients with hepatitis C virus (HCV) infection, researchers report in the February issue of Clinical Gastroenterology and Hepatology. Most

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  • What Loci Determine Susceptibility to IBD in African Americans?

What Loci Determine Susceptibility to IBD in African Americans?

Although many of the same genetic variants determine susceptibility to inflammatory bowel diseases (IBD) in Caucasians and African Americans, researchers report the identification of variants and loci not previously associated with IBD in African American populations. Analyses of these could provide insight into the pathogenesis of IBD, researchers state in

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