Expressive

rs11264763 - JTB

Magnitude 4.5 · 2 studies on file

Reported associations

  • Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging. - JAMA ophthalmology (2022) · He W, Han X, Ong JS, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S · PubMed 35446358

    Keratoconus can be a debilitating corneal ectasia in which the cornea thins, bulges, and steepens into a conical shape. Early features of keratoconus include myopia and irregular astigmatism, which affect vision and can be treated with contact lenses, collagen cross-linking, or, in advanced cases, corneal transplant. Recent estimates of the prevalence of keratoconus based on results of Scheimpflug imaging in young adults are as high as 1.2%. However, obtaining very large keratoconus data sets for a genome-wide association study (GWAS) is problematic because few population studies include Scheimpflug imaging and because severe keratoconus is relatively rare. To identify novel keratoconus loci using corneal resistance factor (CRF) and central corneal thickness (CCT). This multitrait GWAS use

  • Multi-omic spatial effects on high-resolution AI-derived retinal thickness - Unknown journal (n.d.) · Unknown authors · PubMed 39904976

    ABSTRACT: Retinal thickness is a marker of retinal health and more broadly, is seen as a promising biomarker for many systemic diseases. Retinal thickness measurements are procured from optical coherence tomography (OCT) as part of routine clinical eyecare. We processed the UK Biobank OCT images using a convolutional neural network to produce fine-scale retinal thickness measurements across > 29,000 points in the macula, the part of the retina responsible for human central vision. The macula is disproportionately affected by high disease burden retinal disorders such as age-related macular degeneration and diabetic retinopathy, which both involve metabolic dysregulation. Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores a

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