Expressive

rs1129448 - TRIOBP

Magnitude 2.2 · 2 studies on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction - Unknown journal (n.d.) · Unknown authors · PubMed 41419686

    ABSTRACT: Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polyg

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Cardiovascular risk assessment with cardiologist Moderate

    Rs1129448 A allele associated with aortic stenosis risk; cardiologist can assess additional CV risk factors and preventive strategies

    Schedule consultation to establish baseline assessment and monitoring plan

  • Glaucoma risk stratification with ophthalmologist Moderate

    Rs1129448 G allele increases glaucoma risk; ophthalmologist can establish baseline intraocular pressure and monitoring schedule

    Schedule consultation for glaucoma risk stratification and baseline measurements

Screening

  • Comprehensive glaucoma screening with tonometry Moderate

    Rs1129448 G allele increases glaucoma risk (p=5e-30, n=609k)

    Annual comprehensive eye exams including tonometry and visual field testing

  • Early echocardiography screening for aortic stenosis Moderate

    Rs1129448 A allele increases aortic stenosis risk (OR=1.050, p=1e-20, n=2.46M)

    Baseline echocardiography at age 35-40, repeat every 3-5 years