Tag: Genetics
Parents’ Weight Status at Age 17 Correlates to Offspring Weight at 17
Maternal, paternal obesity at age 17 years tied to fivefold higher odds of offspring obesity at age 17 years
Rare Predicted Loss-of-Function Variants, Polygenic Risk Score Linked to Risk of A-Fib
Odds ratio of 7.08 for atrial fibrillation for rare pLOF variants combined with high polygenic risk score
SNP rs13194504 AA Genotype Linked to Severity of Tardive Dyskinesia
AA genotype linked to reduced severity, but not occurrence, of TD; no association seen for rs210133 with TD occurrence, severity
Study Quantifies Risk for Gastric, Breast Cancer for Germline CDH1 P/LP Variants
Lifetime cumulative risk for advanced gastric cancer 10.3 and 6.5 percent for male and female carriers, respectively
Cognitive Impairment Delayed With Genetic Variant
Onset of cognitive impairment delayed among those heterozygous for the apolipoprotein E3 Christchurch variant
Females Have Higher Genetic Risk for PTSD
Unique environmental effects, but not a shared environment between siblings, also influences risk
ENDO: Crinecerfont Aids Patients With Congenital Adrenal Hyperplasia
Crinecerfont results in greater decrease from baseline in mean daily glucocorticoid dose among patients with CAH
Individuals With BAP1 Have High Rate of Nail Abnormalities
Almost all patients with nail involvement had polydactylous involvement with onychopapillomas
Male, Female V1421 Carriers Face Similar Risk for Heart Failure Hospitalization
Carriers face similar and substantial risk for heart failure hospitalization, mainly with reduced ejection fraction
Novel Genetic Loci ID’d for Hypertension in European Ancestry
Clinically meaningful differences in BP and increased HTN risk seen in top versus bottom decile of polygenic risk scores