rs10426392 - PTBP1

Magnitude 2.2 · 1 study 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


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Lifestyle context

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

Discuss with your doctor

  • Discuss glaucoma genetic risk with ophthalmologist Moderate

    PTBP1 rs10426392 risk allele is significant genetic factor for glaucoma; informs screening frequency and monitoring intensity

Screening

  • Glaucoma screening and ophthalmologic evaluation High

    PTBP1 rs10426392 C allele associated with significantly increased open-angle glaucoma risk

    Baseline eye exam with intraocular pressure measurement before age 40; repeat every 1-2 years