Tag: Genetics
Genotype Tied to Endovascular Therapy Outcomes in LVO Stroke
Instant, early reocclusion more frequent in carriers of the RNF213 p.R4810K variant, found mainly in people of East Asian descent
Pathways to Advanced Age-Related Macular Degeneration Examined
Distinct serum and genetic risks, associated systemic diseases seen with soft drusen, subretinal drusenoid deposits
Genetics May Affect Pregnancy Risk Factors for Offspring Neurodevelopmental Conditions
Genetic liability to ADHD, schizophrenia linked to pregnancy-related factors thought to be associated with these conditions
Genomic Sequencing Enhances Findings of Hearing Loss in NICU
Diagnosis increased with expanded genomic sequencing combined with hearing screening
113-Gene Signature May Predict Long-Term HCC Risk in NAFLD
Prognostic liver signature validated in cohorts of patients with NAFLD, with and without history of hepatocellular carcinoma
Genetic Mutations May Help Predict Survival in Parkinson Disease
Among patients with Parkinson disease, SNCA or GBA mutations associated with shorter survival compared with no mutations
Risk Score Developed for RA-Linked Interstitial Lung Disease
Independent risk factors for rheumatoid arthritis (RA)-associated ILD include MUC5B rs35705950 T risk allele, male sex, older age at RA onset
Azathioprine Discontinuation Up for Patients With CC Genotype
Patients with rs2814778-CC also have lower last leukocyte count and lower dosing; findings persist after adjustment for race
Genetic Variants in HMGCR Linked to Increased Cataract Risk
Heterozygous carriers of HMGCR predicted loss-of-function variants had higher risks for developing cataract, cataract surgery
ASCO: Ancestry-Specific Genetic Risk Examined for TNBC
Magnitudes of gene-specific risks for triple-negative breast cancer similar across racial/ethnic groups