Tag: Genetics
Homozygous Familial Hypercholesterolemia Has Variable Presentation
Low-density lipoprotein cholesterol goals achieved by a minority of adults and children despite multiple lipid-lowering treatments
Population Genomic Screening for Three Conditions Likely Cost-Effective
Genomic screening for Lynch syndrome, hereditary breast and ovarian cancer syndrome, and familial hypercholesterolemia likely cost-effective for adults younger than 40 years
Genetically Predicted Rheumatoid Arthritis Linked to Osteoporosis
Positive association was robust when MR Egger, weighted median, weighted mode were exploited
Diagnosis of Difficult-to-Diagnose Developmental Disorders Discussed
Diagnosis made in about 41 percent of probands with severe disorder; 76 percent had pathogenic de novo variant
Germline Genetic Testing Feasible for Advanced Prostate Cancer
High satisfaction reported for genetic testing model including education, follow-up with genetic counselor
Poor Sleep Patterns Linked to Increased Asthma Risk
Additive risk seen, with more than twofold higher risk for combination of poor sleep and high genetic susceptibility
H. Pylori Infection Negatively Modifies Genetically Increased Risk for Gastric Cancer
Interaction identified between H. pylori infection and pathogenic variants in homologous-recombination genes
Cluster Headache, Migraine Highly Circadian
Circadian pattern of attacks identified, and circadian associations seen at systems and cellular levels
Genomic Loci Associated With Addiction Identified
Nineteen independent SNPs identified that were genome-wide significant for general addiction risk factor
Clinical Utility Poor for Prostate Cancer Germline Panels in African Men
Seventeen variants identified as potentially oncogenic in 17.7 percent of South African male patients