Home Tags Genetics

Tag: Genetics

Diet explains little of the variation in serum urate levels in the general population

Diet Less Important Than Genes for High Serum Urate Levels

Certain foods linked to high or low serum urate levels, but dietary scores have limited contribution
Exome sequencing-based screening may identify pathogenic and likely pathogenic BRCA1/2 variants that might otherwise remain undetected

Genomic Screening Can ID Undetected BRCA1/2 Cancer Risk

82 percent of variant carriers identified in exome sequencing had not undergone prior testing
Clusters of type 2 diabetes loci and traits have been identified

Genetics May Identify Type 2 Diabetes Subtypes

Five clusters of T2DM loci and traits, each with distinct tissue-specific enhancer enrichment, identified
Among individuals undergoing hereditary cancer testing

Cancer-Related Gene Variations Frequently Reclassified

24.9 percent of variants of uncertain significance were reclassified at a single commercial laboratory
New risk factors have been identified for varicose vein disease

New Risk Factors Identified for Varicose Vein Disease

Mendelian randomization analysis provides evidence that increased height causally tied to varicose veins
Genetic testing should become the standard of care for patients with definite or probable familial hypercholesterolemia

Genetic Testing Recommended for Familial Hypercholesterolemia

Expert panel recommends genetic testing as standard of care for definite or probable cases
Patients with chronic obstructive pulmonary disease with shorter telomere length have worse health status

Worse Health Status With Shorter Telomere Length in COPD

Rate of exacerbation, risk of mortality up with shorter telomere length in placebo-treated patients
Newborns should not undergo universal sequencing at birth

Experts Advise Against Universal DNA Sequencing of Newborns

Targeted, whole-exome or whole-genome sequencing can assist in diagnosis of symptomatic infants
Fifteen genetic determinants of fracture

Fifteen Genetic Determinants of Fracture Identified

All determinants also associated with bone mineral density, which showed causal effect on fracture
KLRD1-expressing natural killer cells may be a biomarker for influenza susceptibility

Immune Cells’ Gene Expression May Predict Flu Susceptibility

Expression of KLRD1 by natural killer cells before infection associated with influenza severity