Expressive

rs11710845 - LINC01214

Magnitude 2.2 · 4 studies on file

Reported associations

  • Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci - Unknown journal (n.d.) · Unknown authors · PubMed 37386247

    ABSTRACT: Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also show high heritability: intraocular pressure and optic nerve head excavation damage quantified as the vertical cup-to-disc ratio. Here, since much of glaucoma heritability remains unexplained, we conducted a large-scale multitrait genome-wide association study in participants of European ancestry combining primary open-angle glaucoma and its two associated traits (total sample size over 600,000) to substantially improve genetic discovery power (263 loci). We further increased our power by then employing a multiancestry approach,

  • Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries - Unknown journal (n.d.) · Unknown authors · PubMed 33627673

    ABSTRACT: Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. S

  • Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression - Unknown journal (n.d.) · Unknown authors · PubMed 31959993

    ABSTRACT: Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterized optic nerve photographs of 67,040 UK Biobank participants and used a multitrait genetic model to identify risk loci for glaucoma. A novel glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases, and modifies penetrance of MYOC p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile, and are at 15-fold increased risk of developing advanced glaucoma (top 10% vs. remaining 90% OR = 4.20). The PRS predicts glaucoma progression in pros

  • A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure - Unknown journal (n.d.) · Unknown authors · PubMed 29235454

    ABSTRACT: Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability. Here, we conduct a genome-wide association study of IOP in 69,756 untreated individuals of European, Latino, Asian, and African ancestry. Multiple longitudinal IOP measurements were collected through electronic health records and, in total, 356,987 measurements were included. We identify 47 genome-wide significant IOP-associated loci (P < 5 × 10−8); of the 40 novel loci, 14 replicate at Bonferroni significance in an external genome-wide association study analysis of 37,930 individuals of European and Asian descent. We further exam

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