Mutation Linked to Increased Risk of Prostate Cancer Mortality
The risk of dying of prostate cancer doubled in the presence of a genetic mutation affecting testosterone production, a large prospective cohort study showed. The 5-year risk of prostate cancer-specific mortality (PCSM) increased from 1.7% to as much as 4%, depending on the genotype of the HSD3B1(1245C) allele. In a subgroup of patients with metastatic […]
Early Bird? Night Owl? It May Matter for Eating Disorder Risk
People with anorexia nervosa may be more likely to be early risers, a genetic association study suggested. Looking at nearly 17,000 cases with this eating disorder, genetic liability for anorexia nervosa was associated with a more morning chronotype — or a preference for the morning (β=0.039, 95% CI 0.006-0.072, P=0.02), Hassan Dashti, PhD, RD, of […]
Clinical Challenges: New Hope in Management of Neurofibromatosis
A decade of progress has brought hope to management of genetic tumor-causing conditions that fall under the umbrella of neurofibromatosis (NF). “There have been more discoveries and more approaches in the past decade than the 100 years before that,” said Roger J. Packer, MD, of the Gilbert Family Neurofibromatosis Institute at Children’s National Hospital in […]
Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants
Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found. In the Genomic Medicine for Ill Neonates and Infants (GEMINI) study, the diagnostic yield of whole genome sequencing was 49%, compared with 27% with NewbornDx, a standard targeted gene […]
Scientists link genes to diet in inflammatory bowel disease: A study in mice identifies candidate genes associated with bowel inflammation caused by a high-fat diet
A study of the genetic variation that makes mice more susceptible to bowel inflammation after a high-fat diet has identified candidate genes which may drive inflammatory bowel disease (IBD) in humans. The findings are published as a Reviewed Preprint in eLife. Described by the editors as a fundamental study, the work provides a framework for […]
Genetic Risk Score Predicts Hypertensive Disorders of Pregnancy
With new genetic variants identified for preeclampsia and gestational hypertension, researchers created polygenic risk scores (PRS) that may better identify candidates for prophylactic low-dose aspirin among pregnant mothers. There were 18 independent genetic loci significantly associated with hypertensive disorders of pregnancy (HDPs) — 12 of them new (i.e., MTHFR-CLCN6, WNT3A, NPR3, PGR, and RGL3) — […]
People with obesity due to genetic predisposition have lower risk of cardiovascular disease
The risk of developing cardiovascular disease is lower in people with obesity who have a genetic predisposition for high BMI than people with obesity influenced mainly by environmental factors such as lifestyle, researchers from Karolinska Institutet report in eClinicalMedicine. There has been a global increase in the incidence of overweight and obesity over the past […]
Lousy Sleep Compounds Genetic Risk for Asthma in Adults
Poor sleep patterns and high genetic susceptibility together doubled the risk of asthma development in adults, a prospective study using U.K. Biobank data found. Individuals in the study who had the highest polygenic risk score (PRS) or were poor sleepers had a 47-55% higher risk for asthma over a median 8 years of follow-up compared […]
FDA OKs First Gene Therapy for Hemophilia B
The FDA on Tuesday approved the first gene therapy for treating hemophilia B, a genetic bleeding disorder resulting from missing or insufficient levels of factor IX. Etranacogene dezaparvovec (Hemgenix) is indicated for adults with the condition who currently use factor IX prophylaxis therapy for blood clotting, those who have or have had life-threatening hemorrhage, or […]
Genetic background has an effect on the metabolism of essential fatty acids
Genetic background has an effect on the metabolism of the essential polyunsaturated fatty acids alpha-linolenic acid and linoleic acid, a recent study from the University of Eastern Finland shows. Supplementing the diet with camelina oil rich in alpha-linolenic acid, or with sunflower oil rich in linoleic acid altered the concentrations of the metabolites of these […]