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genetic risk variants

Geisinger MyCode Study Reveals Prevalence of Somatic Variants Linked to Rare Syndrome

Using exome sequence data for more than 163,000 Geisinger MyCode participants, researchers looked for variants in UBA1 that have been linked to VEXAS syndrome.

Type 2 Diabetes Mechanisms, Risk Genes Identified in GWAS Meta-Analysis

Researchers uncovered candidate risk genes and potential mechanisms and conducted further analyses of proinsulin-associated risk loci.

Sarcoma Susceptibility Traced to Telomere Function, Mitotic Pathways

A search for rare sarcoma-related germline variants led to centromere and shelterin genes involved in mitotic function and telomere regulation, respectively.

Cochlear Implant Outcomes Linked to Type of Genetic Diagnosis for Childhood Hearing Loss

Data from more than 400 families affected by childhood-onset hearing loss indicated that specific genes and variants can provide prognostic clues, including success of cochlear implants.

Varicose Vein GWAS Points to Vascular Risk Loci, Potential Treatment Targets

Starting with a multi-ancestry genome-wide association study, researchers unearthed varicose vein-related variants, along with related traits and treatment targets.

Dec 20, 2022

Multiomic Study Points to New Colorectal Cancer Risk Contributors

Dec 16, 2022

Study Finds Genetic Roots of Brown Coloring in Black Bears

Dec 14, 2022

Study Links Maternal Mental Illness-Related Variants to Perinatal Risk Factors For Offspring

Dec 7, 2022

Tobacco, Alcohol Use Contributors Uncovered With Multi-Ancestry GWAS

Dec 5, 2022

Cross-Trait Meta-Analysis Explores Potential Pleiotropy Across Psychiatric Conditions

Nov 30, 2022

Clonal Hematopoiesis Linked to Common, Rare Genetic Variants

Nov 21, 2022

New Osteoarthritis Genetic Risk Loci Uncovered in Multi-Ancestry Analyses

Nov 17, 2022

Non-Random Mating May Exaggerate Findings of Pleiotropy in Population Genetic Studies

Nov 3, 2022

Meta-Analyses Hint at Severe COVID-19 Risk Factors, Ties to Autoimmune Disease

Nov 1, 2022

Epilepsy Management Often Shifts After Multigene Panel Testing, Study Finds

Oct 28, 2022

Complex Trait-Related CNVs Unearthed Using Haplotype-Informed Approach

Oct 25, 2022

Diabetes Polygenic Risk Score Performance Improved by Addition of Rare Variants

Oct 24, 2022

Liver Disease Multiomic Analysis Reveals Detection Clues, Points to Treatment Strategies

Oct 20, 2022

Dyslexia GWAS Leads to Dozens of Risk Loci, Polygenic Risk Score

Oct 18, 2022

Hip Fracture GWAS, Mendelian Randomization Reveal Risk Loci

Oct 7, 2022

Team Untangles Mechanism Behind Noncoding Glioma Risk Variant

Oct 6, 2022

Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses

Oct 4, 2022

Sequencing Data Helps Elucidate Blood Pressure Ties to Rare Sodium Channel Mutations

Sep 30, 2022

Stroke Risk Contributors, Treatment Targets Uncovered in Cross-Ancestry GWAS

Sep 19, 2022

Extrachromosomal DNA Appears to Boost Cancer Adaptability, Impact Drug Response

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The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.