Tag: Genetics
Mutations in DOCK2 ID’d in Early-Onset Invasive Infections
Biallelic mutations identified in five children with severe infections, autoimmunity, or both
FCGR3B Copy Number Loss Ups SLE, Lupus Nephritis Risk
Increased risk of systemic lupus erythematosus, lupus nephritis with copy number loss, not gain
Genome-Wide Data Can Classify Gliomas Into Subtypes
Two studies show distinct molecular classes of gliomas based on genomic alterations
ADA: New Research Delves Into Genetic Risk for Obesity
Cells might be programmed in the womb to accumulate extra fat, researchers suggest
Meta-Analysis: ABCG2 Q141K Polymorphism Tied to Gout Risk
T allele linked to increased gout risk; association affected by gender, ethnicity
Model Including CRC Risk Alleles Ups Risk Discrimination
Model more accurately determines risk of colorectal cancer; defines recommended screening age
ASCO: MMR Deficiency Predicts Pembrolizumab Response
Findings may help doctors better choose patients to receive pembrolizumab (Keytruda)
Genetic Variants Linked to Educational Attainment
CNVs linked to lower education attainment in geographically distinct unselected populations
ASCO: Many Cancer Patients Interested in Genetic Profiling
Two-thirds of patients feel that tumor profiling could improve their treatment; many will pay out of pocket
Resistance Training Effects Vary Per Genetic Profiles
Not as effective in women with high risk for obesity
