• A Forward Genetic Screen Identifies Suppressors of Hepatocellular Carcinogenesis

A Forward Genetic Screen Identifies Suppressors of Hepatocellular Carcinogenesis

Using 2 powerful high-throughput in vivo screening tools, researchers identified and validated 27 genes as suppressors of hepatocellular carcinoma (HCC), reported in the August issue of Gastroenterology. Their findings support the role of Ras signaling in development of HCC and provide new therapeutic targets. Sorafenib is the only treatment for patients

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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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  • Special Issue: Genetics, Genetic Testing, and Biomarkers of Digestive Diseases

Special Issue: Genetics, Genetic Testing, and Biomarkers of Digestive Diseases

A special issue of Gastroenterology features 14 articles discussing the genetic factors that contribute to a range of gastrointestinal (GI),  hepatobiliary, and pancreatic diseases, and how this information can be used in diagnosis and treatment of patients. An introduction to the special issue explains the value of associating diseases with specific genetic variants, which can help

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  • What Gene Mutations Cause Familial Colorectal Cancers?

What Gene Mutations Cause Familial Colorectal Cancers?

Mutations in the DNA repair gene, FAN1, cause some inherited forms of colorectal cancer (CRC), researchers report in the September issue of Gastroenterology. Identification of another gene associated with this hereditary cancer will facilitate management of patients with family histories of cancer. Germline mutations in EPCAM, APC, MUTYH, POLE, POLD1, GREM1,

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  • Researchers Determine how FTO Variant Increases Obesity Risk

Researchers Determine how FTO Variant Increases Obesity Risk

Variants in the FTO gene have been associated with obesity and metabolic disease, but little is known about the function of its product. Researchers now show how this gene regulates body weight. FTO encodes a nuclear protein of the AlkB related non-heme iron and 2-oxoglutarate-dependent oxygenase superfamily. In the NIH

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Genetic Analysis of Icelandic Population Provides Disease Insights

Scientists in Iceland have performed an unprecedentated genetic analysis of an entire nation, associating previously undiscovered mutations with disorders such as liver disease and gallstones. In 4 articles published last week in Nature Genetics, researchers at DeCODE, an Icelandic genetics firm owned by Amgen, described sequencing the genomes of 2636

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  • A Genetic Cause of Chronic Intestinal Pseudo-obstruction

A Genetic Cause of Chronic Intestinal Pseudo-obstruction

An inherited form of chronic intestinal pseudo-obstruction (CIPO) is caused by mutations in a transcription factor that disrupt the structure and function of enteric innervation, researchers report in the April issue of Gastroenterology. Elena Bonora et al show that patients with CIPO carry mutations in RAD21 that disrupt the ability of its

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  • Leptin Mutation Causes Early-Onset Extreme Obesity

Leptin Mutation Causes Early-Onset Extreme Obesity

A mutation in the gene encoding the appetite-controlling hormone leptin (LEP) found to cause extreme obesity in a young child, researchers report. Martin Wabitsch et al describe insatiable appetite and early-onset extreme obesity in a 2-year old caused by a homozygous transversion in LEP.  The boy had a high serum

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  • Author Q&A Series: H pylori-associated Gastric Cancer

Author Q&A Series: H pylori-associated Gastric Cancer

Gastric tumors and tissues from humans and mice accumulate somatic mutations in various genes in the gastric mucosa upon Helicobacter pylori infection, researchers report in the August issue of Gastroenterology. In the study, Takahiro Shimizu et al. show that increased cytidine deaminase activity in these tissues promotes the accumulation of these mutations and might

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