Expressive

rs11117401 - LINC02182

Magnitude 4.5 · 2 studies on file

Reported associations

  • Multi-trait genome-wide association study identifies new loci associated with optic disc parameters - Unknown journal (n.d.) · Unknown authors · PubMed 31798171

    ABSTRACT: A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influencing multiple traits. Here, we applied new meta-analyses of optic nerve head (ONH) related traits implicated in primary open-angle glaucoma (POAG); intraocular pressure and central corneal thickness using Haplotype reference consortium imputations. We performed a multi-trait analysis of ONH parameters cup area, disc area and vertical cup-disc ratio. We uncover new variants; rs11158547 in PPP1R36-PLEKHG3 and rs1028727 near SERPINE3 at genome-wide significance that replicate in independent Asian cohorts imputed to 1000 Genomes. A

  • A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus - Unknown journal (n.d.) · Unknown authors · PubMed 33649486

    ABSTRACT: Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endotheli

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Lifestyle context

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

Discuss with your doctor

  • Keratoconus risk before refractive surgery High

    Variant is strongly associated with keratoconus (p=3.68E-20); secondary progressive corneal thinning can occur after LASIK or PRK, potentially causing severe vision loss

    Before laser vision correction (LASIK, PRK), discuss this genetic risk with your ophthalmologist and consider alternative refractive approaches

Screening

  • Baseline corneal imaging and periodic keratoconus monitoring High

    Strong genetic association (p=3.68E-20, n=26742 multi-ethnic cohort) justifies baseline assessment and longitudinal monitoring with corneal tomography to detect subclinical disease early, enabling collagen cross-linking intervention if needed

    Obtain baseline corneal imaging (Pentacam or topography) with ophthalmologist and periodic follow-up exams at intervals determined by initial findings