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Tag: Genetics

Smoking may modify a previously reported genetic association with Parkinson's disease

Smoking Alters Genetic Relationship with Parkinson’s

Smoking, HLA-DRB1 may be involved in common pathways, possibly neuroinflammation
A novel gene expression profiling diffuse large B-cell lymphoma classifier

Gene Expression Assay Classifies Diffuse Large B-Cell Lymphoma

Assay assesses expression of 21 markers, classifies most samples into expected subtype
The HSD3B1 (1245C) allele is associated with more rapid development of metastases in men with biochemically recurrent prostate cancer

Genetic Variant Tied to Prostate Cancer Outcomes

Time to metastasis, length of survival vary by number of HSD3B1 (1245C) variant alleles
Antisocial behavior may be highly polygenic

Antisocial Behavior May Be Highly Polygenic

Promising loci that have sex-discordant associations with ASB identified
Many basic scientists and clinical researchers support somatic genome editing in adults for prevention of serious disease but not for human enhancement; they also believe the public should be consulted before any clinical application of germline gene editing proceeds

Scientists Support Genome Editing to Prevent Disease

Majority of survey respondents support gene editing to treat diseases but not human enhancement
An analysis of whole-exome and RNA sequencing data reveals mutations

Insulinomas May Hold Key to Diabetes Drug Development

Novel discovery of molecular pathways may reveal map to regenerate insulin-producing cells
Clinical exome sequencing is an effective diagnostic tool for infants suspected of having monogenic disorders

Clinical Exome Sequencing Useful for Critically Ill Infants

Molecular diagnosis affects medical management in ~half of infants ID'd by clinical exome sequencing
For patients with diverse malignancies

Hypermutated ctDNA Linked to Checkpoint Inhibitor Response

Patients with high alteration number in variants of unknown significance had better outcomes
Children with CYP2C19*17 alleles without corresponding loss-of-function alleles have longer times with pH <4 in response to proton pump inhibitor medication

CYPC19*17 Allele May Influence Response to PPI Treatment

Kids with CYPC19&#42;17 alleles without corresponding loss-of-function alleles have longer times with pH &#60;4
Genotype-guided warfarin dosing is associated with reduced risk of adverse events compared with clinically-guided dosing among patients undergoing elective hip or knee arthroplasty

Genotype-Guided Warfarin Dosing Cuts Adverse Events

Risk of composite of major bleeding, INR ≥4, VTE, death down for hip, knee arthroplasty patients