Tag: Genetics
ACG: Digital Risk Assessment Tool Can ID Risk for Cancer Susceptibility Syndromes
15.6 percent of those who underwent genetic testing had pathogenic/likely pathogenic variants
Impact of Cancer Predisposing Variants on Mortality Examined in Survivors
Carrying cancer predisposing genes linked to increased risk for subsequent malignant-related mortality in childhood cancer survivors
Four SNPs Linked to Chronic Complex Regional Pain Syndrome Type 1
Four nonsynonymous single nucleotide polymorphisms increased in discovery cohort and confirmed in replication cohort
Four Genetic Variants ID’d for Risk for Progressive Multifocal Leukoencephalopathy
All four risk variants were predicted to be deleterious and were located in two immune pathways
Shorter Leucocyte Telomere Length Linked to Dementia Risk
Shorter leucocyte telomere length also associated with smaller total brain volume, white matter volume, hippocampus volume
Alzheimer, Parkinson Disease Share Protective Association at HLA Locus
Protective HLA-DRB1*04 subtypes bind strongly to aggregation-prone tau PHF6 sequence when acetylated at K311
Genetic Evidence Supports Causal Effect for Diastolic BP on Benign Prostatic Hyperplasia
Risk effect of diastolic blood pressure on benign prostatic hyperplasia persists after conditioning with waist circumference
Plasma ctDNA Genotyping Can Accelerate Time to Treatment for NSCLC
Median time to treatment was 39 days for ACCELERATE cohort versus 62 days for reference cohort using standard tissue genotyping
Genes Identified in Association With Multiple Sclerosis Severity
Significant association identified with rs10191329 in the DYSF-ZNF638 locus, with risk allele shortening time to needing walking aid
Moderate- to Vigorous-Intensity Physical Activity Cuts Diabetes Risk
Larger absolute risk reduction seen among those with the highest genetic risk
